nsv6314383
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:complex chromosomal rearrangement
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Description:
46;XX;t(2;10)(p23;q22.1)dn AND multiple conditions - Publication(s):Redin et al. 2016
- ClinVar: RCV000258782.1
- ClinVar: VCV000268010.1
- HP: 0000256
- HP: 0000377
- HP: 0000430
- HP: 0000725
- HP: 0001252
- HP: 0001520
- HP: 0001611
- HP: 0008070
- HP: 0011343
- HP: 0012278
- HP: 0040111
- MedGen: C0026827
- MedGen: C0338614
- MedGen: C0566620
- MedGen: C0857379
- MedGen: C1834055
- MedGen: C1848395
- MedGen: C2237142
- MedGen: C2243051
- MedGen: C5139064
- MedGen: C5551005
- PubMed: 27841880
- Overlapping Genes
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: 71 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 72 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 5 SVs from 5 studies. See in: genome view
Overlapping variant regions from other studies: 2 SVs from 2 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 72 SVs from 18 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|---|
nsv6314383 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 22,991,594 | 22,991,594 | - |
nsv6314383 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 22,993,514 | 22,993,514 | + |
nsv6314383 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 74,846,168 | 74,846,168 | + |
nsv6314383 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 74,849,628 | 74,849,628 | - |
nsv6314383 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646202.1 | Chr10|NW_0 09646202.1 | 50,844 | 50,844 | + |
nsv6314383 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646202.1 | Chr10|NW_0 09646202.1 | 54,304 | 54,304 | - |
nsv6314383 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 23,214,466 | 23,214,466 | - | ||
nsv6314383 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 23,216,386 | 23,216,386 | + | ||
nsv6314383 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 76,605,926 | 76,605,926 | + | ||
nsv6314383 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 76,609,386 | 76,609,386 | - |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv17976035 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 22,991,594 | 22,991,594 | - |
nssv17976034 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 22,993,514 | 22,993,514 | + |
nssv17976035 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_009646202.1 | Chr10|NW_0 09646202.1 | 50,844 | 50,844 | + |
nssv17976034 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_009646202.1 | Chr10|NW_0 09646202.1 | 54,304 | 54,304 | - |
nssv17976035 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 74,846,168 | 74,846,168 | + |
nssv17976034 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 74,849,628 | 74,849,628 | - |
nssv17976035 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 23,214,466 | 23,214,466 | - | ||
nssv17976034 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 23,216,386 | 23,216,386 | + | ||
nssv17976035 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 76,605,926 | 76,605,926 | + | ||
nssv17976034 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 76,609,386 | 76,609,386 | - |