nsv2763689
- Organism: Homo sapiens
- Study:nstd130 (Leppa et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:54,386
- Publication(s):Leppa et al. 2016
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: 2355 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 2355 SVs from 95 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv2763689 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,265,265 | 78,319,650 |
nsv2763689 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 78,974,982 | 79,029,367 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv13635803 | deletion | SNP array | Probe signal intensity |
nssv13635804 | deletion | SNP array | Probe signal intensity |
nssv13635805 | deletion | SNP array | Probe signal intensity |
nssv13635806 | deletion | SNP array | Probe signal intensity |
nssv13635807 | deletion | SNP array | Probe signal intensity |
nssv13635808 | deletion | SNP array | Probe signal intensity |
nssv13635809 | deletion | SNP array | Probe signal intensity |
nssv13635810 | deletion | SNP array | Probe signal intensity |
nssv13635811 | duplication | SNP array | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv13635803 | Remapped | Perfect | NC_000006.12:g.(?_ 78265265)_(7831965 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,265,265 | 78,319,650 |
nssv13635804 | Remapped | Perfect | NC_000006.12:g.(?_ 78265265)_(7831965 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,265,265 | 78,319,650 |
nssv13635805 | Remapped | Perfect | NC_000006.12:g.(?_ 78265265)_(7831965 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,265,265 | 78,319,650 |
nssv13635806 | Remapped | Perfect | NC_000006.12:g.(?_ 78265265)_(7831965 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,265,265 | 78,319,650 |
nssv13635807 | Remapped | Perfect | NC_000006.12:g.(?_ 78265265)_(7831965 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,265,265 | 78,319,650 |
nssv13635808 | Remapped | Perfect | NC_000006.12:g.(?_ 78265265)_(7831965 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,265,265 | 78,319,650 |
nssv13635809 | Remapped | Perfect | NC_000006.12:g.(?_ 78265265)_(7831965 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,265,265 | 78,319,650 |
nssv13635810 | Remapped | Perfect | NC_000006.12:g.(?_ 78265265)_(7831965 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,265,265 | 78,319,650 |
nssv13635811 | Remapped | Perfect | NC_000006.12:g.(?_ 78265265)_(7831965 0_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,265,265 | 78,319,650 |
nssv13635803 | Submitted genomic | NC_000006.11:g.(?_ 78974982)_(7902936 7_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,974,982 | 79,029,367 | ||
nssv13635804 | Submitted genomic | NC_000006.11:g.(?_ 78974982)_(7902936 7_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,974,982 | 79,029,367 | ||
nssv13635805 | Submitted genomic | NC_000006.11:g.(?_ 78974982)_(7902936 7_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,974,982 | 79,029,367 | ||
nssv13635806 | Submitted genomic | NC_000006.11:g.(?_ 78974982)_(7902936 7_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,974,982 | 79,029,367 | ||
nssv13635807 | Submitted genomic | NC_000006.11:g.(?_ 78974982)_(7902936 7_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,974,982 | 79,029,367 | ||
nssv13635808 | Submitted genomic | NC_000006.11:g.(?_ 78974982)_(7902936 7_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,974,982 | 79,029,367 | ||
nssv13635809 | Submitted genomic | NC_000006.11:g.(?_ 78974982)_(7902936 7_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,974,982 | 79,029,367 | ||
nssv13635810 | Submitted genomic | NC_000006.11:g.(?_ 78974982)_(7902936 7_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,974,982 | 79,029,367 | ||
nssv13635811 | Submitted genomic | NC_000006.11:g.(?_ 78974982)_(7902936 7_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,974,982 | 79,029,367 |