nsv1153846
- 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:62,702
- 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: 724 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 631 SVs from 60 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 |
---|---|---|---|---|---|---|---|---|---|
nsv1153846 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 90,326,237 | 90,388,938 |
nsv1153846 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 90,385,099 | 90,447,800 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv4002501 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv4002501 | Remapped | Perfect | NC_000002.12:g.(90 326237_?)_(?_90388 938)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 90,326,237 | 90,388,938 |
nssv4002501 | Submitted genomic | NC_000002.11:g.(90 385099_?)_(?_90447 800)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,385,099 | 90,447,800 |