nsv1119242
- Organism: Homo sapiens
- Study:nstd106 (Alsmadi et al. 2014)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:89,501
- Publication(s):Alsmadi et al. 2014
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: 986 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1028 SVs from 98 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv1119242 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 430,510 | 520,010 |
nsv1119242 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 2,195,300 | 2,284,800 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv3959677 | duplication | KWS1 | Sequencing | Read depth and paired-end mapping | 22,470 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv3959677 | Remapped | Perfect | NT_187576.1:g.(430 510_?)_(?_520010)d up | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 430,510 | 520,010 |
nssv3959677 | Submitted genomic | NC_000008.10:g.(21 95300_?)_(?_228480 0)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,195,300 | 2,284,800 |