nsv4668185
- 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:6,764
- Description:esv3887172 from 1000 Genomes Consortium Phase 3 Integrated SV. 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: 499 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 376 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 676 SVs from 78 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4668185 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000022.11 | Chr22 | 23,984,522 | 23,991,282 |
| nsv4668185 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 220,888 | 227,651 |
| nsv4668185 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 24,326,713 | 24,333,476 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16198041 | copy number loss | Curated | Curated |
| nssv16206172 | copy number gain | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16198041 | Remapped | Perfect | NT_187633.1:g.2208 88_227651del | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 220,888 | 227,651 |
| nssv16206172 | Remapped | Perfect | NT_187633.1:g.2208 88_227651dup | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 220,888 | 227,651 |
| nssv16198041 | Remapped | Good | NC_000022.11:g.239 84522_23991282del | GRCh38.p12 | Second Pass | NC_000022.11 | Chr22 | 23,984,522 | 23,991,282 |
| nssv16206172 | Remapped | Good | NC_000022.11:g.239 84522_23991282dup | GRCh38.p12 | Second Pass | NC_000022.11 | Chr22 | 23,984,522 | 23,991,282 |
| nssv16198041 | Submitted genomic | NC_000022.10:g.243 26713_24333476del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,326,713 | 24,333,476 | ||
| nssv16206172 | Submitted genomic | NC_000022.10:g.243 26713_24333476dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,326,713 | 24,333,476 |
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) |
|---|---|---|---|
| nssv16198041 | 0.426 | 2131 | 5008 |
| nssv16206172 | 0.011 | 55 | 5008 |