nsv6314421
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:complex chromosomal rearrangement
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Description:46;XX;t(X;22)(q13;q13) AND multiple conditions
- Publication(s):Manickam et al. 2021, Michelson et al. 2011, Moeschler et al. 2014, Redin et al. 2016, Shao et al. 2021
- ClinVar: RCV000258622.2
- ClinVar: VCV000267877.1
- HP: 0000274
- HP: 0000501
- HP: 0000659
- HP: 0001249
- HP: 0001250
- HP: 0004928
- HP: 0004950
- HP: 0011344
- HP: 0011480
- MONDO: 0001071
- MONDO: 0005041
- MONDO: 0011414
- MeSH: D008607
- MedGen: C0017601
- MedGen: C0036572
- MedGen: C0344559
- MedGen: C1837397
- MedGen: C1855538
- MedGen: C3640024
- MedGen: C3714756
- MedGen: C4025272
- OMIM: 604229
- Orphanet: 708
- PubMed: 21956720
- PubMed: 25157020
- PubMed: 27841880
- PubMed: 34131312
- PubMed: 34211152
- 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 21 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 21 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv6314421 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 31,226,472 | 31,226,472 | + |
nsv6314421 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 31,226,484 | 31,226,484 | + |
nsv6314421 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 31,226,484 | 31,226,484 | + |
nsv6314421 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 31,226,615 | 31,226,615 | + |
nsv6314421 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 63,463,318 | 63,463,318 | + |
nsv6314421 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 63,463,320 | 63,463,320 | + |
nsv6314421 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 31,622,458 | 31,622,458 | + | ||
nsv6314421 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 31,622,470 | 31,622,470 | + | ||
nsv6314421 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 31,622,470 | 31,622,470 | + | ||
nsv6314421 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 31,622,601 | 31,622,601 | + | ||
nsv6314421 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 62,683,198 | 62,683,198 | + | ||
nsv6314421 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 62,683,200 | 62,683,200 | + |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv17975542 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 31,226,472 | 31,226,472 | + |
nssv17975540 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 31,226,484 | 31,226,484 | + |
nssv17975541 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 31,226,484 | 31,226,484 | + |
nssv17975542 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 31,226,615 | 31,226,615 | + |
nssv17975541 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 63,463,318 | 63,463,318 | + |
nssv17975540 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 63,463,320 | 63,463,320 | + |
nssv17975542 | Submitted genomic | GRCh37 (hg19) | NC_000022.10 | Chr22 | 31,622,458 | 31,622,458 | + | ||
nssv17975540 | Submitted genomic | GRCh37 (hg19) | NC_000022.10 | Chr22 | 31,622,470 | 31,622,470 | + | ||
nssv17975541 | Submitted genomic | GRCh37 (hg19) | NC_000022.10 | Chr22 | 31,622,470 | 31,622,470 | + | ||
nssv17975542 | Submitted genomic | GRCh37 (hg19) | NC_000022.10 | Chr22 | 31,622,601 | 31,622,601 | + | ||
nssv17975541 | Submitted genomic | GRCh37 (hg19) | NC_000023.10 | ChrX | 62,683,198 | 62,683,198 | + | ||
nssv17975540 | Submitted genomic | GRCh37 (hg19) | NC_000023.10 | ChrX | 62,683,200 | 62,683,200 | + |