nsv5388113
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:213
- Description:nsv4925043 from Abel et. al 2020. For a full list of variants now included in nstd186, refer to the mapping file provided here.
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: 333 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 130 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 111 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 132 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 334 SVs from 72 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5388113 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 195,760,459 | 195,760,671 |
nsv5388113 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 130,956 | 131,168 |
nsv5388113 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 34,065 | 34,277 |
nsv5388113 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 34,065 | 34,277 |
nsv5388113 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 34,065 | 34,277 |
nsv5388113 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 130,956 | 131,168 |
nsv5388113 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 34,065 | 34,277 |
nsv5388113 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 195,487,330 | 195,487,542 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16880848 | duplication | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16880848 | Remapped | Perfect | NT_187688.1:g.3406 5_34277dup | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 34,065 | 34,277 |
nssv16880848 | Remapped | Perfect | NT_187690.1:g.3406 5_34277dup | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 34,065 | 34,277 |
nssv16880848 | Remapped | Perfect | NT_187691.1:g.3406 5_34277dup | GRCh38.p12 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 34,065 | 34,277 |
nssv16880848 | Remapped | Perfect | NT_187689.1:g.1309 56_131168dup | GRCh38.p12 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 130,956 | 131,168 |
nssv16880848 | Remapped | Perfect | NT_187649.1:g.3406 5_34277dup | GRCh38.p12 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 34,065 | 34,277 |
nssv16880848 | Remapped | Perfect | NT_187532.1:g.1309 56_131168dup | GRCh38.p12 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 130,956 | 131,168 |
nssv16880848 | Remapped | Perfect | NC_000003.12:g.195 760459_195760671du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,760,459 | 195,760,671 |
nssv16880848 | Submitted genomic | NC_000003.11:g.195 487330_195487542du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,487,330 | 195,487,542 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
---|---|---|---|
nssv16880848 | 0.359 | 10487 | 29246 |