nsv4635009
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:62
- Description:esv3883168 from 1000 Genomes Consortium Phase 3 Integrated SV and nsv5012034 from Abel et. al 2020 and nsv5528871 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 123 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4635009 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 15,623,517 | 15,623,578 |
| nsv4635009 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 15,734,327 | 15,734,388 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16194934 | deletion | Curated | Curated |
| nssv16872561 | deletion | Curated | Curated |
| nssv16874776 | deletion | Curated | Curated |
| nssv17959061 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16194934 | Remapped | Perfect | NC_000019.10:g.156 23517_15623578del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,623,517 | 15,623,578 |
| nssv16872561 | Remapped | Perfect | NC_000019.10:g.156 23517_15623578del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,623,517 | 15,623,578 |
| nssv16874776 | Remapped | Perfect | NC_000019.10:g.156 23517_15623578del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,623,517 | 15,623,578 |
| nssv17959061 | Remapped | Perfect | NC_000019.10:g.156 23517_15623578del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,623,517 | 15,623,578 |
| nssv16194934 | Submitted genomic | NC_000019.9:g.1573 4327_15734388del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,734,327 | 15,734,388 | ||
| nssv16872561 | Submitted genomic | NC_000019.9:g.1573 4327_15734388del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,734,327 | 15,734,388 | ||
| nssv16874776 | Submitted genomic | NC_000019.9:g.1573 4327_15734388del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,734,327 | 15,734,388 | ||
| nssv17959061 | Submitted genomic | NC_000019.9:g.1573 4327_15734388del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,734,327 | 15,734,388 |
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) |
|---|---|---|---|
| nssv16194934 | 0.123 | 618 | 5008 |
| nssv16872561 | 0.178 | 5191 | 29246 |
| nssv16874776 | 0.193 | 3242 | 16834 |
| nssv17959061 | 0.142 | 901 | 6346 |