nsv1001677
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,092,852
- Publication(s):Coe 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: 2523 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 2523 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 811 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1001677 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 124,015,843 | 125,108,694 |
| nsv1001677 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 123,734,690 | 124,827,538 |
| nsv1001677 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 125,217,380 | 126,310,228 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3604534 | copy number loss | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3604534 | Remapped | Perfect | NC_000003.12:g.(?_ 124015843)_(125108 694_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 124,015,843 | 125,108,694 |
| nssv3604534 | Remapped | Perfect | NC_000003.11:g.(?_ 123734690)_(124827 538_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 123,734,690 | 124,827,538 |
| nssv3604534 | Submitted genomic | NC_000003.10:g.(?_ 125217380)_(126310 228_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 125,217,380 | 126,310,228 |