nsv4387982
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:234,300
- Publication(s):Zarrei et al. 2019
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: 3129 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 803 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 798 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 3131 SVs from 58 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4387982 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 326,996 | 561,295 |
| nsv4387982 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187667.1 | ChrX|NT_18 7667.1 | 25,947 | 233,788 |
| nsv4387982 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187634.1 | ChrX|NT_18 7634.1 | 37,893 | 244,648 |
| nsv4387982 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 287,731 | 522,030 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15660059 | copy number gain | 3-0636-000 | SNP array | Genotyping | 26 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15660059 | Remapped | Pass | NT_187667.1:g.(?_2 5947)_(233788_?)du p | GRCh38.p12 | Second Pass | NT_187667.1 | ChrX|NT_18 7667.1 | 25,947 | 233,788 |
| nssv15660059 | Remapped | Pass | NT_187634.1:g.(?_3 7893)_(244648_?)du p | GRCh38.p12 | Second Pass | NT_187634.1 | ChrX|NT_18 7634.1 | 37,893 | 244,648 |
| nssv15660059 | Remapped | Perfect | NC_000023.11:g.(?_ 326996)_(561295_?) dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 326,996 | 561,295 |
| nssv15660059 | Submitted genomic | NC_000023.10:g.(?_ 287731)_(522030_?) dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 287,731 | 522,030 |