nsv6314492
- 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;inv(17)(q24q25) AND Failure to thrive
- 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: 95 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 97 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 97 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 10 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 10 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 97 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 97 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv6314492 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 70,450,228 | 70,450,228 | + |
| nsv6314492 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 70,450,234 | 70,450,234 | - |
| nsv6314492 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 78,075,988 | 78,075,988 | - |
| nsv6314492 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 78,075,990 | 78,075,990 | + |
| nsv6314492 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315954.1 | Chr17|NW_0 03315954.1 | 150,004 | 150,004 | + |
| nsv6314492 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315954.1 | Chr17|NW_0 03315954.1 | 150,010 | 150,010 | - |
| nsv6314492 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 68,446,369 | 68,446,369 | + | ||
| nsv6314492 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 68,446,375 | 68,446,375 | - | ||
| nsv6314492 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 76,072,069 | 76,072,069 | - | ||
| nsv6314492 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 76,072,071 | 76,072,071 | + |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17975774 | inversion | Multiple | Multiple | Failure to thrive; Failure to thrive | Uncertain significance | ClinVar | RCV000258696.1, VCV000267972.1 |
| nssv17975775 | inversion | Multiple | Multiple | Failure to thrive; Failure to thrive | Uncertain significance | ClinVar | RCV000258696.1, VCV000267972.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17975774 | Remapped | Perfect | NW_003315954.1:g.1 50004inv697 | GRCh38.p12 | Second Pass | NW_003315954.1 | Chr17|NW_0 03315954.1 | 150,004 | 150,004 |
| nssv17975775 | Remapped | Perfect | NW_003315954.1:g.1 50010inv381 | GRCh38.p12 | Second Pass | NW_003315954.1 | Chr17|NW_0 03315954.1 | 150,010 | 150,010 |
| nssv17975774 | Remapped | Perfect | NC_000017.11:g.780 75988inv697NC_0000 17.11:g.70450228in v697 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 70,450,228 | 70,450,228 |
| nssv17975775 | Remapped | Perfect | NC_000017.11:g.704 50234inv381NC_0000 17.11:g.78075990in v381 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 70,450,234 | 70,450,234 |
| nssv17975774 | Remapped | Perfect | NC_000017.11:g.780 75988inv697NC_0000 17.11:g.70450228in v697 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 78,075,988 | 78,075,988 |
| nssv17975775 | Remapped | Perfect | NC_000017.11:g.704 50234inv381NC_0000 17.11:g.78075990in v381 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 78,075,990 | 78,075,990 |
| nssv17975774 | Submitted genomic | NC_000017.10:g.684 46369inv697NC_0000 17.10:g.76072069in v697 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 68,446,369 | 68,446,369 | ||
| nssv17975775 | Submitted genomic | NC_000017.10:g.684 46375inv381NC_0000 17.10:g.76072071in v381 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 68,446,375 | 68,446,375 | ||
| nssv17975774 | Submitted genomic | NC_000017.10:g.684 46369inv697NC_0000 17.10:g.76072069in v697 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 76,072,069 | 76,072,069 | ||
| nssv17975775 | Submitted genomic | NC_000017.10:g.684 46375inv381NC_0000 17.10:g.76072071in v381 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 76,072,071 | 76,072,071 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17975774 | GRCh37: NC_000017.10:g.68446369inv697NC_000017.10:g.76072069inv697 | inversion | unknown | Failure to thrive; Failure to thrive | Uncertain significance | ClinVar | RCV000258696.1, VCV000267972.1 |
| nssv17975775 | GRCh37: NC_000017.10:g.68446375inv381NC_000017.10:g.76072071inv381 | inversion | unknown | Failure to thrive; Failure to thrive | Uncertain significance | ClinVar | RCV000258696.1, VCV000267972.1 |