nsv3918042
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:478,135
- Description:NCBI36/hg18 6p22.1(chr6:29030746-29433836)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1209 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 278 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 309 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 256 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 1209 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 256 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 90 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 281 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 306 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 304 SVs from 20 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv3918042 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 28,911,643 | 28,954,990 | 29,358,080 | 29,389,777 |
nsv3918042 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | - | 181,174 | 630,323 | - |
nsv3918042 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | - | 233,925 | 673,942 | - |
nsv3918042 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | - | 178,625 | 630,101 | - |
nsv3918042 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | - | 240,377 | 616,872 | - |
nsv3918042 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 28,879,420 | 28,922,767 | 29,325,857 | 29,357,554 |
nsv3918042 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_3 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | - | 245,961 | 622,457 | - |
nsv3918042 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_5 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | - | 186,758 | 635,908 | - |
nsv3918042 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_7 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | - | 233,223 | 673,240 | - |
nsv3918042 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_4 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | - | 184,244 | 635,721 | - |
nsv3918042 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 28,987,399 | 29,030,746 | 29,433,836 | 29,465,533 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15128775 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000452768.2, VCV000399342.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15128775 | Remapped | Pass | NT_167246.2:g.(?_1 78625)_(630101_?)d up | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | - | 178,625 | 630,101 | - |
nssv15128775 | Remapped | Pass | NT_167247.2:g.(?_1 81174)_(630323_?)d up | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | - | 181,174 | 630,323 | - |
nssv15128775 | Remapped | Pass | NT_167249.2:g.(?_2 33925)_(673942_?)d up | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | - | 233,925 | 673,942 | - |
nssv15128775 | Remapped | Pass | NT_167245.2:g.(?_2 40377)_(616872_?)d up | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | - | 240,377 | 616,872 | - |
nssv15128775 | Remapped | Perfect | NC_000006.12:g.(28 911643_28954990)_( 29358080_29389777) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 28,911,643 | 28,954,990 | 29,358,080 | 29,389,777 |
nssv15128775 | Remapped | Pass | NT_167246.1:g.(?_1 84244)_(635721_?)d up | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | - | 184,244 | 635,721 | - |
nssv15128775 | Remapped | Pass | NT_167247.1:g.(?_1 86758)_(635908_?)d up | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | - | 186,758 | 635,908 | - |
nssv15128775 | Remapped | Pass | NT_167249.1:g.(?_2 33223)_(673240_?)d up | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | - | 233,223 | 673,240 | - |
nssv15128775 | Remapped | Pass | NT_167245.1:g.(?_2 45961)_(622457_?)d up | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | - | 245,961 | 622,457 | - |
nssv15128775 | Remapped | Perfect | NC_000006.11:g.(28 879420_28922767)_( 29325857_29357554) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 28,879,420 | 28,922,767 | 29,325,857 | 29,357,554 |
nssv15128775 | Submitted genomic | NC_000006.10:g.(28 987399_29030746)_( 29433836_29465533) dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 28,987,399 | 29,030,746 | 29,433,836 | 29,465,533 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15128775 | NCBI36: NC_000006.10:g.(28987399_29030746)_(29433836_29465533)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000452768.2, VCV000399342.2 | 3 |