nsv1149403
- Organism: Homo sapiens
- Study:nstd107 (John 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:53,744
- Publication(s):John 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: 716 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 412 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 763 SVs from 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1149403 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 42,139,251 | 42,191,952 |
| nsv1149403 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187579.1 | Chr10|NT_1 87579.1 | 36,012 | 89,755 |
| nsv1149403 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 42,634,699 | 42,687,400 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv4000707 | duplication | KWB1 | Sequencing | Read depth and paired-end mapping | 8,440 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv4000707 | Remapped | Good | NT_187579.1:g.(360 12_?)_(?_89755)dup | GRCh38.p12 | Second Pass | NT_187579.1 | Chr10|NT_1 87579.1 | 36,012 | 89,755 |
| nssv4000707 | Remapped | Perfect | NC_000010.11:g.(42 139251_?)_(?_42191 952)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 42,139,251 | 42,191,952 |
| nssv4000707 | Submitted genomic | NC_000010.10:g.(42 634699_?)_(?_42687 400)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 42,634,699 | 42,687,400 |