nsv4655448
- 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:182,091
- Description:nsv4153402 from gnomAD Structural Variants and nsv4962381 from Abel et. al 2020. 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: 1306 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1306 SVs from 94 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4655448 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 136,668,039 | 136,850,129 |
| nsv4655448 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 137,680,282 | 137,862,372 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16168201 | deletion | Curated | Curated |
| nssv16888688 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16168201 | Remapped | Perfect | NC_000008.11:g.136 668039_136850129de l | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,668,039 | 136,850,129 |
| nssv16888688 | Remapped | Perfect | NC_000008.11:g.136 668039_136850129de l | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,668,039 | 136,850,129 |
| nssv16168201 | Submitted genomic | NC_000008.10:g.137 680282_137862372de l | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,680,282 | 137,862,372 | ||
| nssv16888688 | Submitted genomic | NC_000008.10:g.137 680282_137862372de l | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,680,282 | 137,862,372 |
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) |
|---|---|---|---|
| nssv16168201 | 0.011 | 247 | 21694 |
| nssv16888688 | 0.014 | 417 | 29246 |