nsv6622989
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:94,184
- Publication(s):Zarrei et al. 2023
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: 1821 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1821 SVs from 95 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6622989 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 24,201,830 | 24,296,013 |
nsv6622989 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 24,446,977 | 24,541,160 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18283671 | deletion | OSC2395 | SNP array | Probe signal intensity | nssv18283043, nssv18283042 |
nssv18288932 | duplication | OSC3302 | SNP array | Probe signal intensity | 5 |
nssv18300161 | duplication | OSC5401 | SNP array | Probe signal intensity | 7 |
nssv18300712 | duplication | OSC5626 | SNP array | Probe signal intensity | nssv18300713 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18283671 | Remapped | Perfect | NC_000015.10:g.(?_ 24201830)_(2429601 3_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,201,830 | 24,296,013 |
nssv18288932 | Remapped | Perfect | NC_000015.10:g.(?_ 24201830)_(2429601 3_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,201,830 | 24,296,013 |
nssv18300161 | Remapped | Perfect | NC_000015.10:g.(?_ 24201830)_(2429601 3_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,201,830 | 24,296,013 |
nssv18300712 | Remapped | Perfect | NC_000015.10:g.(?_ 24201830)_(2429601 3_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,201,830 | 24,296,013 |
nssv18283671 | Submitted genomic | NC_000015.9:g.(?_2 4446977)_(24541160 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,446,977 | 24,541,160 | ||
nssv18288932 | Submitted genomic | NC_000015.9:g.(?_2 4446977)_(24541160 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,446,977 | 24,541,160 | ||
nssv18300161 | Submitted genomic | NC_000015.9:g.(?_2 4446977)_(24541160 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,446,977 | 24,541,160 | ||
nssv18300712 | Submitted genomic | NC_000015.9:g.(?_2 4446977)_(24541160 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,446,977 | 24,541,160 |