nsv6314567
- 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(6)(p11.1q21)dn AND multiple conditions - Publication(s):Manickam et al. 2021, Michelson et al. 2011, 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: 93 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 93 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 93 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 93 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv6314567 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 113,280,938 | 113,280,938 | - |
| nsv6314567 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 113,280,940 | 113,280,940 | + |
| nsv6314567 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 54,545,019 | 54,545,019 | - |
| nsv6314567 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 54,545,020 | 54,545,020 | + |
| nsv6314567 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 113,602,140 | 113,602,140 | - | ||
| nsv6314567 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 113,602,142 | 113,602,142 | + | ||
| nsv6314567 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 54,409,817 | 54,409,817 | - | ||
| nsv6314567 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 54,409,818 | 54,409,818 | + |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976050 | inversion | Multiple | Multiple | Abnormality of the eye; Abnormality of the eye; Global developmental delay; Global developmental delay | Uncertain significance | ClinVar | RCV000258790.1, VCV000268013.1 |
| nssv17976049 | inversion | Multiple | Multiple | Abnormality of the eye; Abnormality of the eye; Global developmental delay; Global developmental delay | Uncertain significance | ClinVar | RCV000258790.1, VCV000268013.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976050 | Remapped | Perfect | NC_000006.12:g.113 280940inv876NC_000 006.12:g.54545019i nv876 | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 54,545,019 | 54,545,019 |
| nssv17976049 | Remapped | Perfect | NC_000006.12:g.113 280938inv710NC_000 006.12:g.54545020i nv710 | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 54,545,020 | 54,545,020 |
| nssv17976049 | Remapped | Perfect | NC_000006.12:g.113 280938inv710NC_000 006.12:g.54545020i nv710 | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 113,280,938 | 113,280,938 |
| nssv17976050 | Remapped | Perfect | NC_000006.12:g.113 280940inv876NC_000 006.12:g.54545019i nv876 | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 113,280,940 | 113,280,940 |
| nssv17976050 | Submitted genomic | NC_000006.11:g.113 602142inv876NC_000 006.11:g.54409817i nv876 | GRCh37 (hg19) | NC_000006.11 | Chr6 | 54,409,817 | 54,409,817 | ||
| nssv17976049 | Submitted genomic | NC_000006.11:g.113 602140inv710NC_000 006.11:g.54409818i nv710 | GRCh37 (hg19) | NC_000006.11 | Chr6 | 54,409,818 | 54,409,818 | ||
| nssv17976049 | Submitted genomic | NC_000006.11:g.113 602140inv710NC_000 006.11:g.54409818i nv710 | GRCh37 (hg19) | NC_000006.11 | Chr6 | 113,602,140 | 113,602,140 | ||
| nssv17976050 | Submitted genomic | NC_000006.11:g.113 602142inv876NC_000 006.11:g.54409817i nv876 | GRCh37 (hg19) | NC_000006.11 | Chr6 | 113,602,142 | 113,602,142 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976050 | GRCh37: NC_000006.11:g.113602142inv876NC_000006.11:g.54409817inv876 | inversion | de novo | Abnormality of the eye; Abnormality of the eye; Global developmental delay; Global developmental delay | Uncertain significance | ClinVar | RCV000258790.1, VCV000268013.1 |
| nssv17976049 | GRCh37: NC_000006.11:g.113602140inv710NC_000006.11:g.54409818inv710 | inversion | de novo | Abnormality of the eye; Abnormality of the eye; Global developmental delay; Global developmental delay | Uncertain significance | ClinVar | RCV000258790.1, VCV000268013.1 |