nsv4634383
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,362
- Description:nsv4162691 from gnomAD Structural Variants and nsv4962019 from Abel et. al 2020. 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: 269 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 269 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4634383 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 114,067,086 | 114,068,447 |
| nsv4634383 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 115,079,315 | 115,080,676 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16170546 | deletion | Curated | Curated |
| nssv16876137 | deletion | Curated | Curated |
| nssv16882743 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16170546 | Remapped | Perfect | NC_000008.11:g.114 067086_114068447de l | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 114,067,086 | 114,068,447 |
| nssv16876137 | Remapped | Perfect | NC_000008.11:g.114 067086_114068447de l | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 114,067,086 | 114,068,447 |
| nssv16882743 | Remapped | Perfect | NC_000008.11:g.114 067086_114068447de l | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 114,067,086 | 114,068,447 |
| nssv16170546 | Submitted genomic | NC_000008.10:g.115 079315_115080676de l | GRCh37 (hg19) | NC_000008.10 | Chr8 | 115,079,315 | 115,080,676 | ||
| nssv16876137 | Submitted genomic | NC_000008.10:g.115 079315_115080676de l | GRCh37 (hg19) | NC_000008.10 | Chr8 | 115,079,315 | 115,080,676 | ||
| nssv16882743 | Submitted genomic | NC_000008.10:g.115 079315_115080676de l | GRCh37 (hg19) | NC_000008.10 | Chr8 | 115,079,315 | 115,080,676 |
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) |
|---|---|---|---|
| nssv16170546 | 0.131 | 2844 | 21692 |
| nssv16876137 | 0.142 | 4138 | 29246 |
| nssv16882743 | 0.151 | 2539 | 16834 |