nsv6302217
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:74
- Description:nsv6143829 from Byrska-Bishop et. al 2021. 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: 254 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 255 SVs from 56 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6302217 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 1,641,709 | 1,641,782 |
| nsv6302217 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187657.1 | Chr11|NT_1 87657.1 | 116,075 | 116,147 |
| nsv6302217 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187584.1 | Chr11|NT_1 87584.1 | 123,946 | 124,019 |
| nsv6302217 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 1,662,939 | 1,663,012 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17674176 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17674176 | Remapped | Good | NT_187657.1:g.1160 75_116147dup | GRCh38.p12 | Second Pass | NT_187657.1 | Chr11|NT_1 87657.1 | 116,075 | 116,147 |
| nssv17674176 | Remapped | Perfect | NT_187584.1:g.1239 46_124019dup | GRCh38.p12 | Second Pass | NT_187584.1 | Chr11|NT_1 87584.1 | 123,946 | 124,019 |
| nssv17674176 | Remapped | Perfect | NC_000011.10:g.164 1709_1641782dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,641,709 | 1,641,782 |
| nssv17674176 | Submitted genomic | NC_000011.9:g.1662 939_1663012dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,662,939 | 1,663,012 |
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) |
|---|---|---|---|
| nssv17674176 | 0.015 | 98 | 6378 |