nsv6314261
- 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(4)(q34.2q35.2).ish AND multiple conditions - Publication(s):Redin et al. 2016
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 122 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 145 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 305 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 296 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 122 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 145 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 305 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 296 SVs from 45 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv6314261 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 174,079,140 | 174,079,140 | + |
nsv6314261 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 184,176,792 | 184,176,792 | + |
nsv6314261 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 188,901,617 | 188,901,617 | - |
nsv6314261 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 188,920,643 | 188,920,643 | + |
nsv6314261 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 175,000,291 | 175,000,291 | + | ||
nsv6314261 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 185,097,945 | 185,097,945 | + | ||
nsv6314261 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 189,822,771 | 189,822,771 | - | ||
nsv6314261 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 189,841,797 | 189,841,797 | + |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17975727 | intrachromosomal translocation | Multiple | Multiple | Micrognathia; Micrognathia; Microtia; Microtia | Uncertain significance | ClinVar | RCV000258668.1, VCV000267946.1 |
nssv17975726 | intrachromosomal translocation | Multiple | Multiple | Micrognathia; Micrognathia; Microtia; Microtia | Uncertain significance | ClinVar | RCV000258668.1, VCV000267946.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv17975727 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 174,079,140 | 174,079,140 | + |
nssv17975726 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 184,176,792 | 184,176,792 | + |
nssv17975726 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 188,901,617 | 188,901,617 | - |
nssv17975727 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 188,920,643 | 188,920,643 | + |
nssv17975727 | Submitted genomic | GRCh37 (hg19) | NC_000004.11 | Chr4 | 175,000,291 | 175,000,291 | + | ||
nssv17975726 | Submitted genomic | GRCh37 (hg19) | NC_000004.11 | Chr4 | 185,097,945 | 185,097,945 | + | ||
nssv17975726 | Submitted genomic | GRCh37 (hg19) | NC_000004.11 | Chr4 | 189,822,771 | 189,822,771 | - | ||
nssv17975727 | Submitted genomic | GRCh37 (hg19) | NC_000004.11 | Chr4 | 189,841,797 | 189,841,797 | + |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|
nssv17975727 | intrachromosomal translocation | unknown | Micrognathia; Micrognathia; Microtia; Microtia | Uncertain significance | ClinVar | RCV000258668.1, VCV000267946.1 |
nssv17975726 | intrachromosomal translocation | unknown | Micrognathia; Micrognathia; Microtia; Microtia | Uncertain significance | ClinVar | RCV000258668.1, VCV000267946.1 |