nsv483095
- Organism: Homo sapiens
- Study:nstd41 (Iafrate et al. 2004)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:149,404
- Publication(s):Iafrate et al. 2004
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: 1148 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 816 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 1148 SVs from 91 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 |
---|---|---|---|---|---|---|---|---|---|
nsv483095 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,775,701 | 34,925,104 |
nsv483095 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 268,030 | 376,187 |
nsv483095 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 34,777,323 | 34,926,726 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv2996050 | copy number gain | BAC aCGH | Probe signal intensity |
nssv2996532 | copy number gain | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv2996050 | Remapped | Pass | NW_003315915.1:g.( ?_268030)_(376187_ ?)dup | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 268,030 | 376,187 |
nssv2996532 | Remapped | Pass | NW_003315915.1:g.( ?_268030)_(376187_ ?)dup | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 268,030 | 376,187 |
nssv2996050 | Remapped | Perfect | NC_000004.12:g.(?_ 34775701)_(3492510 4_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,775,701 | 34,925,104 |
nssv2996532 | Remapped | Perfect | NC_000004.12:g.(?_ 34775701)_(3492510 4_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,775,701 | 34,925,104 |
nssv2996050 | Submitted genomic | NC_000004.11:g.(?_ 34777323)_(3492672 6_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,777,323 | 34,926,726 | ||
nssv2996532 | Submitted genomic | NC_000004.11:g.(?_ 34777323)_(3492672 6_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,777,323 | 34,926,726 |