nsv6314371
- 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(1;5)(p31;q33)dn AND multiple conditions - Publication(s):Manickam et al. 2021, Michelson et al. 2011, Redin et al. 2016
- ClinVar: RCV000258694.2
- ClinVar: VCV000267832.1
- HP: 0000286
- HP: 0000322
- HP: 0000735
- HP: 0001250
- HP: 0001252
- HP: 0001263
- HP: 0001336
- HP: 0001999
- HP: 0002353
- HP: 0002500
- HP: 0005280
- HP: 0010747
- HP: 0030051
- HP: 0040083
- HP: 0100021
- MONDO: 0006497
- MONDO: 0020164
- MedGen: C0007789
- MedGen: C0026827
- MedGen: C0027066
- MedGen: C0036572
- MedGen: C0150080
- MedGen: C0151611
- MedGen: C0424503
- MedGen: C0427144
- MedGen: C0557874
- MedGen: C0678230
- MedGen: C0948163
- MedGen: C1836542
- MedGen: C1844562
- MedGen: C1861324
- OMIM: 131500
- 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: 119 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 119 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 88 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 88 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 119 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 119 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 88 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 88 SVs from 20 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv6314371 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 85,691,448 | 85,691,448 | - |
nsv6314371 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 85,691,449 | 85,691,449 | - |
nsv6314371 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 89,533,745 | 89,533,745 | + |
nsv6314371 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 89,533,747 | 89,533,747 | + |
nsv6314371 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 86,157,131 | 86,157,131 | - | ||
nsv6314371 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 86,157,132 | 86,157,132 | - | ||
nsv6314371 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 88,829,562 | 88,829,562 | + | ||
nsv6314371 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 88,829,564 | 88,829,564 | + |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv17975772 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 85,691,448 | 85,691,448 | - |
nssv17975773 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 85,691,449 | 85,691,449 | - |
nssv17975773 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 89,533,745 | 89,533,745 | + |
nssv17975772 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 89,533,747 | 89,533,747 | + |
nssv17975772 | Submitted genomic | GRCh37 (hg19) | NC_000001.10 | Chr1 | 86,157,131 | 86,157,131 | - | ||
nssv17975773 | Submitted genomic | GRCh37 (hg19) | NC_000001.10 | Chr1 | 86,157,132 | 86,157,132 | - | ||
nssv17975773 | Submitted genomic | GRCh37 (hg19) | NC_000005.9 | Chr5 | 88,829,562 | 88,829,562 | + | ||
nssv17975772 | Submitted genomic | GRCh37 (hg19) | NC_000005.9 | Chr5 | 88,829,564 | 88,829,564 | + |