nsv6314499
- 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;inv(5)(q14q33)dn AND multiple conditions
- Publication(s):Redin et al. 2016
- ClinVar: RCV000258567.1
- ClinVar: VCV000268008.1
- HP: 0000358
- HP: 0000486
- HP: 0000494
- HP: 0000729
- HP: 0000750
- HP: 0001007
- HP: 0010808
- HP: 0011343
- MONDO: 0003432
- MedGen: C0019572
- MedGen: C0038379
- MedGen: C0241442
- MedGen: C0423110
- MedGen: C0431478
- MedGen: C0454644
- MedGen: C0856975
- MedGen: C2237142
- 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: 114 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 118 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 118 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 19 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv6314499 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 118,861,211 | 118,861,211 | - |
nsv6314499 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 118,864,914 | 118,864,914 | + |
nsv6314499 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 85,894,483 | 85,894,483 | + |
nsv6314499 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 85,894,507 | 85,894,507 | - |
nsv6314499 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 118,196,906 | 118,196,906 | - | ||
nsv6314499 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 118,200,609 | 118,200,609 | + | ||
nsv6314499 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 85,190,301 | 85,190,301 | + | ||
nsv6314499 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 85,190,325 | 85,190,325 | - |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17975367 | Remapped | Perfect | NC_000005.10:g.118 861211invNC_000005 .10:g.85894483inv | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 85,894,483 | 85,894,483 |
nssv17975368 | Remapped | Perfect | NC_000005.10:g.118 864914invNC_000005 .10:g.85894507inv | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 85,894,507 | 85,894,507 |
nssv17975367 | Remapped | Perfect | NC_000005.10:g.118 861211invNC_000005 .10:g.85894483inv | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,861,211 | 118,861,211 |
nssv17975368 | Remapped | Perfect | NC_000005.10:g.118 864914invNC_000005 .10:g.85894507inv | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,864,914 | 118,864,914 |
nssv17975367 | Submitted genomic | NC_000005.9:g.1181 96906invNC_000005. 9:g.85190301inv | GRCh37 (hg19) | NC_000005.9 | Chr5 | 85,190,301 | 85,190,301 | ||
nssv17975368 | Submitted genomic | NC_000005.9:g.8519 0325invNC_000005.9 :g.118200609inv | GRCh37 (hg19) | NC_000005.9 | Chr5 | 85,190,325 | 85,190,325 | ||
nssv17975367 | Submitted genomic | NC_000005.9:g.1181 96906invNC_000005. 9:g.85190301inv | GRCh37 (hg19) | NC_000005.9 | Chr5 | 118,196,906 | 118,196,906 | ||
nssv17975368 | Submitted genomic | NC_000005.9:g.8519 0325invNC_000005.9 :g.118200609inv | GRCh37 (hg19) | NC_000005.9 | Chr5 | 118,200,609 | 118,200,609 |