nsv6314595
- 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;XY;t(7;9)(q21;p23)dn AND multiple conditions - Publication(s):Manickam et al. 2021, Michelson et al. 2011, Mintz et al. 2021, Redin et al. 2016
- ClinVar: RCV000258774.1
- ClinVar: VCV000267807.1
- HP: 0000252
- HP: 0001252
- HP: 0001263
- HP: 0002099
- HP: 0002474
- HP: 0004322
- MONDO: 0001149
- MONDO: 0004979
- MedGen: C0004096
- MedGen: C0026827
- MedGen: C0349588
- MedGen: C0454641
- MedGen: C0557874
- MedGen: C4551563
- PubMed: 21956720
- PubMed: 27841880
- PubMed: 33514815
- 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: 72 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 72 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 185 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 185 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 72 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 72 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 189 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 189 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv6314595 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 92,805,007 | 92,805,007 | + |
| nsv6314595 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 92,805,017 | 92,805,017 | - |
| nsv6314595 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 10,964,656 | 10,964,656 | - |
| nsv6314595 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 10,964,661 | 10,964,661 | + |
| nsv6314595 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 92,434,321 | 92,434,321 | + | ||
| nsv6314595 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 92,434,331 | 92,434,331 | - | ||
| nsv6314595 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 10,964,656 | 10,964,656 | - | ||
| nsv6314595 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 10,964,661 | 10,964,661 | + |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976005 | interchromosomal translocation | Multiple | Multiple | Asthma; Asthma; Expressive language delay; Expressive language delay; Global developmental delay; Global developmental delay; Hypotonia; Microcephaly; Microcephaly; Muscular hypotonia; Short stature; Short stature | Likely pathogenic | ClinVar | RCV000258774.1, VCV000267807.1 |
| nssv17976006 | interchromosomal translocation | Multiple | Multiple | Asthma; Asthma; Expressive language delay; Expressive language delay; Global developmental delay; Global developmental delay; Hypotonia; Microcephaly; Microcephaly; Muscular hypotonia; Short stature; Short stature | Likely pathogenic | ClinVar | RCV000258774.1, VCV000267807.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976005 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 92,805,007 | 92,805,007 | + |
| nssv17976006 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 92,805,017 | 92,805,017 | - |
| nssv17976005 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 10,964,656 | 10,964,656 | - |
| nssv17976006 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 10,964,661 | 10,964,661 | + |
| nssv17976005 | Submitted genomic | GRCh37 (hg19) | NC_000007.13 | Chr7 | 92,434,321 | 92,434,321 | + | ||
| nssv17976006 | Submitted genomic | GRCh37 (hg19) | NC_000007.13 | Chr7 | 92,434,331 | 92,434,331 | - | ||
| nssv17976005 | Submitted genomic | GRCh37 (hg19) | NC_000009.11 | Chr9 | 10,964,656 | 10,964,656 | - | ||
| nssv17976006 | Submitted genomic | GRCh37 (hg19) | NC_000009.11 | Chr9 | 10,964,661 | 10,964,661 | + |
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 |
|---|---|---|---|---|---|---|
| nssv17976005 | interchromosomal translocation | de novo | Asthma; Asthma; Expressive language delay; Expressive language delay; Global developmental delay; Global developmental delay; Hypotonia; Microcephaly; Microcephaly; Muscular hypotonia; Short stature; Short stature | Likely pathogenic | ClinVar | RCV000258774.1, VCV000267807.1 |
| nssv17976006 | interchromosomal translocation | de novo | Asthma; Asthma; Expressive language delay; Expressive language delay; Global developmental delay; Global developmental delay; Hypotonia; Microcephaly; Microcephaly; Muscular hypotonia; Short stature; Short stature | Likely pathogenic | ClinVar | RCV000258774.1, VCV000267807.1 |