nsv959130
- Organism: Homo sapiens
- Study:nstd86 (Poultney et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:50,579
- Publication(s):Poultney et al. 2013
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: 295 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 295 SVs from 47 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv959130 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 9,157,765 | 9,208,343 |
| nsv959130 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 9,310,361 | 9,360,939 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3021173 | duplication | Sequencing | Read depth |
| nssv3021971 | duplication | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv3021173 | Remapped | Perfect | NC_000012.12:g.(91 57357_9157765)_(92 08343_9239467)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 9,157,357 | 9,157,765 | 9,208,343 | 9,239,467 |
| nssv3021971 | Remapped | Perfect | NC_000012.12:g.(91 57843_9158418)_(92 03953_9208257)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 9,157,843 | 9,158,418 | 9,203,953 | 9,208,257 |
| nssv3021173 | Submitted genomic | NC_000012.11:g.(93 09953_9310361)_(93 60939_9392063)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 9,309,953 | 9,310,361 | 9,360,939 | 9,392,063 | ||
| nssv3021971 | Submitted genomic | NC_000012.11:g.(93 10439_9311014)_(93 56549_9360853)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 9,310,439 | 9,311,014 | 9,356,549 | 9,360,853 |