nsv4730047
- Organism: Homo sapiens
- Study:nstd198 (Hanlon et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:28
- Validation:Not tested
- Clinical Assertions: No
- Region Size:22,724
- Publication(s):Hanlon et al. 2021
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 174 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 174 SVs from 53 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4730047 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 123,974,835 | 123,997,558 | ||
nsv4730047 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 126,737,114 | 126,759,837 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv16258108 | inversion | SAMN00006581 | Sequencing | Genotyping | Heterozygous | 348 |
nssv16255930 | inversion | SAMN00001695 | Sequencing | Genotyping | Heterozygous | 368 |
nssv16256170 | inversion | SAMN00006581 | Sequencing | Genotyping | Heterozygous | 348 |
nssv16257028 | inversion | SAMN00006580 | Sequencing | Genotyping | Heterozygous | 344 |
nssv16257041 | inversion | HG00514 | Sequencing | Genotyping | Heterozygous | 338 |
nssv16257957 | inversion | SAMN00006579 | Sequencing | Genotyping | Heterozygous | 303 |
nssv16258211 | inversion | SAMN00001696 | Sequencing | Genotyping | Heterozygous | 349 |
nssv16258331 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
nssv16256289 | inversion | SAMN00006581 | Sequencing | Genotyping | Heterozygous | 348 |
nssv16256471 | inversion | SAMN00001695 | Sequencing | Genotyping | Heterozygous | 368 |
nssv16256920 | inversion | SAMN00001696 | Sequencing | Genotyping | Heterozygous | 349 |
nssv16257345 | inversion | SAMN00006579 | Sequencing | Genotyping | Heterozygous | 303 |
nssv16258224 | inversion | SAMN00006580 | Sequencing | Genotyping | Heterozygous | 344 |
nssv16258398 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
nssv16258726 | inversion | HG00514 | Sequencing | Genotyping | Heterozygous | 338 |
nssv16257004 | inversion | SAMN00006580 | Sequencing | Genotyping | Heterozygous | 344 |
nssv16258297 | inversion | SAMN00001695 | Sequencing | Genotyping | Heterozygous | 368 |
nssv16256113 | inversion | SAMN00006580 | Sequencing | Genotyping | Heterozygous | 344 |
nssv16257157 | inversion | HG00514 | Sequencing | Genotyping | Heterozygous | 338 |
nssv16257398 | inversion | SAMN00001696 | Sequencing | Genotyping | Heterozygous | 349 |
nssv16257569 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
nssv16258100 | inversion | SAMN00006581 | Sequencing | Genotyping | Heterozygous | 348 |
nssv16258563 | inversion | SAMN00006579 | Sequencing | Genotyping | Heterozygous | 303 |
nssv16258783 | inversion | SAMN00001695 | Sequencing | Genotyping | Heterozygous | 368 |
nssv16256898 | inversion | SAMN00006579 | Sequencing | Genotyping | Heterozygous | 303 |
nssv16257044 | inversion | SAMN00001696 | Sequencing | Genotyping | Heterozygous | 349 |
nssv16256390 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
nssv16258237 | inversion | HG00514 | Sequencing | Genotyping | Heterozygous | 338 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16258108 | Submitted genomic | NC_000009.12:g.123 974835_123995050in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,974,835 | 123,995,050 | ||
nssv16255930 | Submitted genomic | NC_000009.12:g.123 976156_123995054in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,976,156 | 123,995,054 | ||
nssv16256170 | Submitted genomic | NC_000009.12:g.123 976156_123995054in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,976,156 | 123,995,054 | ||
nssv16257028 | Submitted genomic | NC_000009.12:g.123 976156_123995054in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,976,156 | 123,995,054 | ||
nssv16257041 | Submitted genomic | NC_000009.12:g.123 976156_123995054in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,976,156 | 123,995,054 | ||
nssv16257957 | Submitted genomic | NC_000009.12:g.123 976156_123995054in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,976,156 | 123,995,054 | ||
nssv16258211 | Submitted genomic | NC_000009.12:g.123 976156_123995054in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,976,156 | 123,995,054 | ||
nssv16258331 | Submitted genomic | NC_000009.12:g.123 976156_123995054in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,976,156 | 123,995,054 | ||
nssv16256289 | Submitted genomic | NC_000009.12:g.123 976373_123993780in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,976,373 | 123,993,780 | ||
nssv16256471 | Submitted genomic | NC_000009.12:g.123 976373_123993780in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,976,373 | 123,993,780 | ||
nssv16256920 | Submitted genomic | NC_000009.12:g.123 976373_123993780in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,976,373 | 123,993,780 | ||
nssv16257345 | Submitted genomic | NC_000009.12:g.123 976373_123993780in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,976,373 | 123,993,780 | ||
nssv16258224 | Submitted genomic | NC_000009.12:g.123 976373_123993780in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,976,373 | 123,993,780 | ||
nssv16258398 | Submitted genomic | NC_000009.12:g.123 976373_123993780in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,976,373 | 123,993,780 | ||
nssv16258726 | Submitted genomic | NC_000009.12:g.123 976373_123993780in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,976,373 | 123,993,780 | ||
nssv16257004 | Submitted genomic | NC_000009.12:g.123 976823_123997558in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,976,823 | 123,997,558 | ||
nssv16258297 | Submitted genomic | NC_000009.12:g.123 977187_123991074in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,977,187 | 123,991,074 | ||
nssv16256113 | Submitted genomic | NC_000009.12:g.123 977744_123993326in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,977,744 | 123,993,326 | ||
nssv16257157 | Submitted genomic | NC_000009.12:g.123 977744_123993326in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,977,744 | 123,993,326 | ||
nssv16257398 | Submitted genomic | NC_000009.12:g.123 977744_123993326in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,977,744 | 123,993,326 | ||
nssv16257569 | Submitted genomic | NC_000009.12:g.123 977744_123993326in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,977,744 | 123,993,326 | ||
nssv16258100 | Submitted genomic | NC_000009.12:g.123 977744_123993326in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,977,744 | 123,993,326 | ||
nssv16258563 | Submitted genomic | NC_000009.12:g.123 977744_123993326in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,977,744 | 123,993,326 | ||
nssv16258783 | Submitted genomic | NC_000009.12:g.123 977744_123993326in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,977,744 | 123,993,326 | ||
nssv16256898 | Submitted genomic | NC_000009.12:g.123 978962_123991190in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,978,962 | 123,991,190 | ||
nssv16257044 | Submitted genomic | NC_000009.12:g.123 978969_123993488in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,978,969 | 123,993,488 | ||
nssv16256390 | Submitted genomic | NC_000009.12:g.123 979051_123993726in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,979,051 | 123,993,726 | ||
nssv16258237 | Submitted genomic | NC_000009.12:g.123 979518_123991110in v | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,979,518 | 123,991,110 | ||
nssv16258108 | Remapped | Perfect | NC_000009.11:g.126 737114_126757329in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,737,114 | 126,757,329 |
nssv16255930 | Remapped | Perfect | NC_000009.11:g.126 738435_126757333in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,738,435 | 126,757,333 |
nssv16256170 | Remapped | Perfect | NC_000009.11:g.126 738435_126757333in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,738,435 | 126,757,333 |
nssv16257028 | Remapped | Perfect | NC_000009.11:g.126 738435_126757333in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,738,435 | 126,757,333 |
nssv16257041 | Remapped | Perfect | NC_000009.11:g.126 738435_126757333in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,738,435 | 126,757,333 |
nssv16257957 | Remapped | Perfect | NC_000009.11:g.126 738435_126757333in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,738,435 | 126,757,333 |
nssv16258211 | Remapped | Perfect | NC_000009.11:g.126 738435_126757333in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,738,435 | 126,757,333 |
nssv16258331 | Remapped | Perfect | NC_000009.11:g.126 738435_126757333in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,738,435 | 126,757,333 |
nssv16256289 | Remapped | Perfect | NC_000009.11:g.126 738652_126756059in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,738,652 | 126,756,059 |
nssv16256471 | Remapped | Perfect | NC_000009.11:g.126 738652_126756059in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,738,652 | 126,756,059 |
nssv16256920 | Remapped | Perfect | NC_000009.11:g.126 738652_126756059in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,738,652 | 126,756,059 |
nssv16257345 | Remapped | Perfect | NC_000009.11:g.126 738652_126756059in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,738,652 | 126,756,059 |
nssv16258224 | Remapped | Perfect | NC_000009.11:g.126 738652_126756059in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,738,652 | 126,756,059 |
nssv16258398 | Remapped | Perfect | NC_000009.11:g.126 738652_126756059in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,738,652 | 126,756,059 |
nssv16258726 | Remapped | Perfect | NC_000009.11:g.126 738652_126756059in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,738,652 | 126,756,059 |
nssv16257004 | Remapped | Perfect | NC_000009.11:g.126 739102_126759837in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,739,102 | 126,759,837 |
nssv16258297 | Remapped | Perfect | NC_000009.11:g.126 739466_126753353in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,739,466 | 126,753,353 |
nssv16256113 | Remapped | Perfect | NC_000009.11:g.126 740023_126755605in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,740,023 | 126,755,605 |
nssv16257157 | Remapped | Perfect | NC_000009.11:g.126 740023_126755605in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,740,023 | 126,755,605 |
nssv16257398 | Remapped | Perfect | NC_000009.11:g.126 740023_126755605in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,740,023 | 126,755,605 |
nssv16257569 | Remapped | Perfect | NC_000009.11:g.126 740023_126755605in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,740,023 | 126,755,605 |
nssv16258100 | Remapped | Perfect | NC_000009.11:g.126 740023_126755605in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,740,023 | 126,755,605 |
nssv16258563 | Remapped | Perfect | NC_000009.11:g.126 740023_126755605in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,740,023 | 126,755,605 |
nssv16258783 | Remapped | Perfect | NC_000009.11:g.126 740023_126755605in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,740,023 | 126,755,605 |
nssv16256898 | Remapped | Perfect | NC_000009.11:g.126 741241_126753469in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,741,241 | 126,753,469 |
nssv16257044 | Remapped | Perfect | NC_000009.11:g.126 741248_126755767in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,741,248 | 126,755,767 |
nssv16256390 | Remapped | Perfect | NC_000009.11:g.126 741330_126756005in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,741,330 | 126,756,005 |
nssv16258237 | Remapped | Perfect | NC_000009.11:g.126 741797_126753389in v | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,741,797 | 126,753,389 |