nsv6314464
- 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(4;14)(p15.2;q13)dn AND multiple conditions - Publication(s):Manickam et al. 2021, Michelson et al. 2011, Redin et al. 2016
- ClinVar: RCV000258690.1
- ClinVar: VCV000267892.1
- HP: 0000164
- HP: 0000256
- HP: 0000358
- HP: 0000750
- HP: 0000978
- HP: 0001028
- HP: 0001182
- HP: 0001252
- HP: 0001263
- HP: 0001903
- HP: 0002020
- HP: 0002099
- HP: 0004209
- HP: 0012393
- HP: 0030148
- MONDO: 0002280
- MONDO: 0004979
- MONDO: 0005271
- MONDO: 0006500
- MedGen: C0002871
- MedGen: C0004096
- MedGen: C0018808
- MedGen: C0018916
- MedGen: C0020517
- MedGen: C0026827
- MedGen: C0262444
- MedGen: C0423798
- MedGen: C0426886
- MedGen: C0431478
- MedGen: C0454644
- MedGen: C0557874
- MedGen: C1850049
- MedGen: C2243051
- MedGen: C4317146
- PubMed: 21956720
- PubMed: 27841880
- 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: 84 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 84 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 65 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 65 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 62 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 62 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 84 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 84 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 65 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 65 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 62 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 62 SVs from 17 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv6314464 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 22,580,380 | 22,580,380 | - |
nsv6314464 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 22,580,380 | 22,580,380 | + |
nsv6314464 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 31,095,459 | 31,095,459 | + |
nsv6314464 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 31,095,460 | 31,095,460 | + |
nsv6314464 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 33,542,762 | 33,542,762 | - |
nsv6314464 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 33,542,762 | 33,542,762 | + |
nsv6314464 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 22,582,003 | 22,582,003 | + | ||
nsv6314464 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 22,582,003 | 22,582,003 | - | ||
nsv6314464 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 31,564,665 | 31,564,665 | + | ||
nsv6314464 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 31,564,666 | 31,564,666 | + | ||
nsv6314464 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 34,011,968 | 34,011,968 | + | ||
nsv6314464 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 34,011,968 | 34,011,968 | - |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv17975760 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 22,580,380 | 22,580,380 | + |
nssv17975761 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 22,580,380 | 22,580,380 | - |
nssv17975761 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 31,095,459 | 31,095,459 | + |
nssv17975759 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 31,095,460 | 31,095,460 | + |
nssv17975759 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 33,542,762 | 33,542,762 | - |
nssv17975760 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 33,542,762 | 33,542,762 | + |
nssv17975760 | Submitted genomic | GRCh37 (hg19) | NC_000004.11 | Chr4 | 22,582,003 | 22,582,003 | + | ||
nssv17975761 | Submitted genomic | GRCh37 (hg19) | NC_000004.11 | Chr4 | 22,582,003 | 22,582,003 | - | ||
nssv17975761 | Submitted genomic | GRCh37 (hg19) | NC_000014.8 | Chr14 | 31,564,665 | 31,564,665 | + | ||
nssv17975759 | Submitted genomic | GRCh37 (hg19) | NC_000014.8 | Chr14 | 31,564,666 | 31,564,666 | + | ||
nssv17975759 | Submitted genomic | GRCh37 (hg19) | NC_000014.8 | Chr14 | 34,011,968 | 34,011,968 | - | ||
nssv17975760 | Submitted genomic | GRCh37 (hg19) | NC_000014.8 | Chr14 | 34,011,968 | 34,011,968 | + |