nsv820031
- Organism: Homo sapiens
- Study:nstd43 (Kim et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:48,221
- Publication(s):Kim et al. 2009
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: 849 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 684 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 849 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 494 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 496 SVs from 30 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 |
---|---|---|---|---|---|---|---|---|---|
nsv820031 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,778,689 | 34,826,909 |
nsv820031 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,018 | 319,238 |
nsv820031 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 34,780,311 | 34,828,531 |
nsv820031 | Remapped | Perfect | GRCh37.p13 | PATCHES | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,018 | 319,238 |
nsv820031 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 34,456,706 | 34,504,926 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv1418743 | copy number gain | SAMN00002681 | Oligo aCGH | Probe signal intensity | 1,333 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1418743 | Remapped | Perfect | NW_003315915.1:g.( ?_271018)_(319238_ ?)dup | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,018 | 319,238 |
nssv1418743 | Remapped | Perfect | NC_000004.12:g.(?_ 34778689)_(3482690 9_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,778,689 | 34,826,909 |
nssv1418743 | Remapped | Perfect | NW_003315915.1:g.( ?_271018)_(319238_ ?)dup | GRCh37.p13 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,018 | 319,238 |
nssv1418743 | Remapped | Perfect | NC_000004.11:g.(?_ 34780311)_(3482853 1_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 34,780,311 | 34,828,531 |
nssv1418743 | Submitted genomic | NC_000004.10:g.(?_ 34456706)_(3450492 6_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 34,456,706 | 34,504,926 |