nsv4367674
- 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:56,277
- 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: 855 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 675 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 855 SVs from 87 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4367674 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,777,410 | 34,833,686 |
nsv4367674 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 269,739 | 326,015 |
nsv4367674 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 34,779,032 | 34,835,308 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15622459 | copy number loss | 1-1034-003 | SNP array | Genotyping | 30 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15622459 | Remapped | Perfect | NW_003315915.1:g.( ?_269739)_(326015_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 269,739 | 326,015 |
nssv15622459 | Remapped | Perfect | NC_000004.12:g.(?_ 34777410)_(3483368 6_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,777,410 | 34,833,686 |
nssv15622459 | Submitted genomic | NC_000004.11:g.(?_ 34779032)_(3483530 8_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,779,032 | 34,835,308 |