nsv3901047
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:155,752,187
- Description:
See descriptions for individual calls in download files
- ClinVar: RCV000140786.5
- ClinVar: RCV000140787.6
- ClinVar: RCV000143219.6
- ClinVar: VCV000152157.2
- ClinVar: VCV000152158.2
- ClinVar: VCV000155152.2
- dbVar: nssv13638562
- dbVar: nssv13638583
- dbVar: nssv13638633
- dbVar: nssv13640292
- dbVar: nssv13640972
- dbVar: nssv13642096
- dbVar: nssv13642921
- dbVar: nssv13645107
- dbVar: nssv13645905
- dbVar: nssv13646790
- dbVar: nssv13647446
- dbVar: nssv13649393
- dbVar: nssv13649436
- dbVar: nssv13650046
- dbVar: nssv13650389
- dbVar: nssv13651889
- dbVar: nssv13652044
- dbVar: nssv13652769
- dbVar: nssv13656117
- dbVar: nssv14081912
- dbVar: nssv14081942
- dbVar: nssv14081943
- dbVar: nssv14081979
- dbVar: nssv14082017
- dbVar: nssv14082091
- dbVar: nssv14082124
- dbVar: nssv14082133
- dbVar: nssv14082185
- dbVar: nssv14082449
- dbVar: nssv1610264
- dbVar: nssv3395264
- dbVar: nssv3395269
- dbVar: nssv3395368
- dbVar: nssv3395400
- dbVar: nssv3396730
- dbVar: nssv3396755
- dbVar: nssv3397024
- dbVar: nssv3397143
- dbVar: nssv3397316
- dbVar: nsv932069
- 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: 233954 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 233185 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 38262 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3901047 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 251,880 | 156,004,066 |
| nsv3901047 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 168,547 | 155,233,731 |
| nsv3901047 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 108,547 | 154,886,925 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161092 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000140786.5, VCV000152157.2 | 4 |
| nssv15161346 | copy number loss | Multiple | Multiple | See cases | conflicting data from submitters | ClinVar | RCV000140787.6, VCV000152158.2 | 1 |
| nssv15161806 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143219.6, VCV000155152.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161092 | Submitted genomic | NC_000023.11:g.(?_ 251880)_(156004066 _?)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 251,880 | 156,004,066 |
| nssv15161346 | Submitted genomic | NC_000023.11:g.(?_ 251880)_(156004066 _?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 251,880 | 156,004,066 |
| nssv15161806 | Submitted genomic | NC_000023.11:g.(?_ 251880)_(156004066 _?)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 251,880 | 156,004,066 |
| nssv15161092 | Submitted genomic | NC_000023.10:g.(?_ 168547)_(155233731 _?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 168,547 | 155,233,731 |
| nssv15161346 | Submitted genomic | NC_000023.10:g.(?_ 168547)_(155233731 _?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 168,547 | 155,233,731 |
| nssv15161806 | Submitted genomic | NC_000023.10:g.(?_ 168547)_(155233731 _?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 168,547 | 155,233,731 |
| nssv15161806 | Submitted genomic | NC_000023.9:g.(?_1 08547)_(154886925_ ?)dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 108,547 | 154,886,925 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161092 | GRCh37: NC_000023.10:g.(?_168547)_(155233731_?)dup, GRCh38: NC_000023.11:g.(?_251880)_(156004066_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000140786.5, VCV000152157.2 | 4 |
| nssv15161346 | GRCh37: NC_000023.10:g.(?_168547)_(155233731_?)del, GRCh38: NC_000023.11:g.(?_251880)_(156004066_?)del | copy number loss | see ClinVar for details | See cases | conflicting data from submitters | ClinVar | RCV000140787.6, VCV000152158.2 | 1 |
| nssv15161806 | GRCh37: NC_000023.10:g.(?_168547)_(155233731_?)dup, GRCh38: NC_000023.11:g.(?_251880)_(156004066_?)dup, NCBI36: NC_000023.9:g.(?_108547)_(154886925_?)dup | copy number gain | see ClinVar for details | See cases | Pathogenic | ClinVar | RCV000143219.6, VCV000155152.2 | 3 |