nsv3923691
- 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:330,411
- Description:NCBI36/hg18 6p21.32(chr6:32564846-32797154)x1 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: 9905 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 1343 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 1325 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 1421 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 9906 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 1296 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 1605 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 1611 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 5849 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3923691 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 32,462,488 | 32,489,091 | 32,721,399 | 32,735,365 |
| nsv3923691 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | - | 3,858,983 | 4,008,035 | - |
| nsv3923691 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | - | 3,833,381 | 4,135,512 | 4,135,512 |
| nsv3923691 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | - | 3,824,251 | 4,154,661 | 4,154,661 |
| nsv3923691 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 32,430,265 | 32,456,868 | 32,689,176 | 32,703,142 |
| nsv3923691 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_5 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | - | 3,864,568 | 4,013,620 | - |
| nsv3923691 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_7 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | - | 3,832,679 | 4,134,810 | 4,134,810 |
| nsv3923691 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_4 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | - | 3,829,871 | 4,160,281 | 4,160,281 |
| nsv3923691 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 32,538,243 | 32,564,846 | 32,797,154 | 32,811,120 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15130664 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000453867.2, VCV000401135.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15130664 | Remapped | Pass | NT_167246.2:g.(?_3 824251)_(4154661_4 154661)del | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | - | 3,824,251 | 4,154,661 | 4,154,661 |
| nssv15130664 | Remapped | Pass | NT_167249.2:g.(?_3 833381)_(4135512_4 135512)del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | - | 3,833,381 | 4,135,512 | 4,135,512 |
| nssv15130664 | Remapped | Pass | NT_167247.2:g.(?_3 858983)_(4008035_? )del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | - | 3,858,983 | 4,008,035 | - |
| nssv15130664 | Remapped | Perfect | NC_000006.12:g.(32 462488_32489091)_( 32721399_32735365) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,462,488 | 32,489,091 | 32,721,399 | 32,735,365 |
| nssv15130664 | Remapped | Pass | NT_167246.1:g.(?_3 829871)_(4160281_4 160281)del | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | - | 3,829,871 | 4,160,281 | 4,160,281 |
| nssv15130664 | Remapped | Pass | NT_167249.1:g.(?_3 832679)_(4134810_4 134810)del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | - | 3,832,679 | 4,134,810 | 4,134,810 |
| nssv15130664 | Remapped | Pass | NT_167247.1:g.(?_3 864568)_(4013620_? )del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | - | 3,864,568 | 4,013,620 | - |
| nssv15130664 | Remapped | Perfect | NC_000006.11:g.(32 430265_32456868)_( 32689176_32703142) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,430,265 | 32,456,868 | 32,689,176 | 32,703,142 |
| nssv15130664 | Submitted genomic | NC_000006.10:g.(32 538243_32564846)_( 32797154_32811120) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,538,243 | 32,564,846 | 32,797,154 | 32,811,120 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15130664 | NCBI36: NC_000006.10:g.(32538243_32564846)_(32797154_32811120)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000453867.2, VCV000401135.2 | 1 |