nsv4654447
- 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:47,914
- Description:nsv4194581 from gnomAD Structural Variants and nsv4847890 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: 743 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 425 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 741 SVs from 84 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4654447 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 49,688,250 | 49,736,163 |
| nsv4654447 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 152,431 | 200,312 |
| nsv4654447 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 49,709,802 | 49,757,715 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16162143 | deletion | Curated | Curated |
| nssv16869779 | deletion | Curated | Curated |
| nssv16882172 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16162143 | Remapped | Good | NW_019805495.1:g.1 52431_200312del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 152,431 | 200,312 |
| nssv16869779 | Remapped | Good | NW_019805495.1:g.1 52431_200312del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 152,431 | 200,312 |
| nssv16882172 | Remapped | Good | NW_019805495.1:g.1 52431_200312del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 152,431 | 200,312 |
| nssv16162143 | Remapped | Perfect | NC_000011.10:g.496 88250_49736163del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,688,250 | 49,736,163 |
| nssv16869779 | Remapped | Perfect | NC_000011.10:g.496 88250_49736163del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,688,250 | 49,736,163 |
| nssv16882172 | Remapped | Perfect | NC_000011.10:g.496 88250_49736163del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,688,250 | 49,736,163 |
| nssv16162143 | Submitted genomic | NC_000011.9:g.4970 9802_49757715del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,709,802 | 49,757,715 | ||
| nssv16869779 | Submitted genomic | NC_000011.9:g.4970 9802_49757715del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,709,802 | 49,757,715 | ||
| nssv16882172 | Submitted genomic | NC_000011.9:g.4970 9802_49757715del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,709,802 | 49,757,715 |
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) |
|---|---|---|---|
| nssv16162143 | 0.043 | 931 | 21694 |
| nssv16869779 | 0.047 | 794 | 16834 |
| nssv16882172 | 0.049 | 1437 | 29246 |