nsv1153303
- 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:12,961
- 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: 516 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 262 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 266 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 516 SVs from 84 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1153303 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 151,143 | 160,561 |
| nsv1153303 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 106,948 | 119,908 |
| nsv1153303 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 143,464 | 152,882 |
| nsv1153303 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 151,143 | 160,561 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv4001221 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv4001221 | Remapped | Pass | NT_187558.1:g.(106 948_?)_(?_119908)d el | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 106,948 | 119,908 |
| nssv4001221 | Remapped | Perfect | NT_187653.1:g.(143 464_?)_(?_152882)d el | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 143,464 | 152,882 |
| nssv4001221 | Remapped | Perfect | NC_000007.14:g.(15 1143_?)_(?_160561) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 151,143 | 160,561 |
| nssv4001221 | Submitted genomic | NC_000007.13:g.(15 1143_?)_(?_160561) del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 151,143 | 160,561 |