nsv4663364
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:115,278
- Description:nsv4606985 from DECIPHER Consensus CNVs. For a full list of variants now included in nstd186, refer to the mapping file provided here.
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: 2707 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 2707 SVs from 103 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4663364 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,241,071 | 78,356,348 |
nsv4663364 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 78,950,788 | 79,066,065 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16193010 | deletion | Curated | Curated |
nssv16199004 | duplication | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16193010 | Remapped | Perfect | NC_000006.12:g.(?_ 78241071)_(7835634 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,241,071 | 78,356,348 |
nssv16199004 | Remapped | Perfect | NC_000006.12:g.(?_ 78241071)_(7835634 8_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,241,071 | 78,356,348 |
nssv16193010 | Submitted genomic | NC_000006.11:g.(?_ 78950788)_(7906606 5_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,950,788 | 79,066,065 | ||
nssv16199004 | Submitted genomic | NC_000006.11:g.(?_ 78950788)_(7906606 5_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,950,788 | 79,066,065 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
---|---|---|---|
nssv16193010 | 0.422 | 357 | 845 |
nssv16199004 | 0.37 | 313 | 845 |