nsv1151342
- 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:57,978
- 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: 142 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 1155 SVs from 81 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv1151342 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000003.12 | Chr3 | - | 91,458,843 | 91,516,820 | - |
| nsv1151342 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_009646198.1 | Chr3|NW_00 9646198.1 | - | 211,504 | 269,480 | - |
| nsv1151342 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 57,321,699 | - | - | 57,423,100 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv4003907 | 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 | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv4003907 | Remapped | Pass | NW_009646198.1:g.( ?_211504)_(269480_ ?)dup | GRCh38.p12 | Second Pass | NW_009646198.1 | Chr3|NW_00 9646198.1 | - | 211,504 | 269,480 | - |
| nssv4003907 | Remapped | Pass | NC_000003.12:g.(?_ 91458843)_(9151682 0_?)dup | GRCh38.p12 | Second Pass | NC_000003.12 | Chr3 | - | 91,458,843 | 91,516,820 | - |
| nssv4003907 | Submitted genomic | NC_000006.11:g.(57 321699_?)_(?_57423 100)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 57,321,699 | - | - | 57,423,100 |