nsv2750201
- Organism: Homo sapiens
- Study:nstd130 (Leppa et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:488,900
- 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: 1939 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 2063 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 4 studies. See in: genome view
Overlapping variant regions from other studies: 6 SVs from 5 studies. See in: genome view
Overlapping variant regions from other studies: 436 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 930 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 898 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 3 studies. See in: genome view
Overlapping variant regions from other studies: 1582 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 916 SVs from 31 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 |
---|---|---|---|---|---|---|---|---|---|
nsv2750201 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,451,197 | 54,911,985 |
nsv2750201 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 433,488 | 894,467 |
nsv2750201 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_10 | Second Pass | NT_187636.1 | Chr19|NT_1 87636.1 | 3 | 248,807 |
nsv2750201 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_27 | Second Pass | NT_187675.1 | Chr19|NT_1 87675.1 | 4 | 282,224 |
nsv2750201 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 363,080 | 652,590 |
nsv2750201 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 355,882 | 844,781 |
nsv2750201 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 357,709 | 843,827 |
nsv2750201 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_016107303.1 | Chr19|NW_0 16107303.1 | 1 | 293,522 |
nsv2750201 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_004166865.1 | Chr19|NW_0 04166865.1 | 667,012 | 914,797 |
nsv2750201 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 59,654,186 | 60,143,609 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv13594704 | duplication | SNP array | Probe signal intensity |
nssv13601621 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv13594704 | Remapped | Pass | NT_187636.1:g.(?_3 )_(248807_?)dup | GRCh38.p12 | Second Pass | NT_187636.1 | Chr19|NT_1 87636.1 | 3 | 248,807 |
nssv13601621 | Remapped | Pass | NT_187636.1:g.(?_3 )_(248807_?)dup | GRCh38.p12 | Second Pass | NT_187636.1 | Chr19|NT_1 87636.1 | 3 | 248,807 |
nssv13594704 | Remapped | Pass | NT_187675.1:g.(?_4 )_(282224_?)dup | GRCh38.p12 | Second Pass | NT_187675.1 | Chr19|NT_1 87675.1 | 4 | 282,224 |
nssv13601621 | Remapped | Pass | NT_187675.1:g.(?_4 )_(282224_?)dup | GRCh38.p12 | Second Pass | NT_187675.1 | Chr19|NT_1 87675.1 | 4 | 282,224 |
nssv13594704 | Remapped | Pass | NT_187693.1:g.(?_4 33488)_(894467_?)d up | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 433,488 | 894,467 |
nssv13601621 | Remapped | Pass | NT_187693.1:g.(?_4 33488)_(894467_?)d up | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 433,488 | 894,467 |
nssv13594704 | Remapped | Pass | NW_003571061.2:g.( ?_363080)_(652590_ ?)dup | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 363,080 | 652,590 |
nssv13601621 | Remapped | Pass | NW_003571061.2:g.( ?_363080)_(652590_ ?)dup | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 363,080 | 652,590 |
nssv13594704 | Remapped | Good | NW_003571060.1:g.( ?_355882)_(844781_ ?)dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 355,882 | 844,781 |
nssv13601621 | Remapped | Good | NW_003571060.1:g.( ?_355882)_(844781_ ?)dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 355,882 | 844,781 |
nssv13594704 | Remapped | Pass | NW_016107303.1:g.( ?_1)_(293522_?)dup | GRCh38.p12 | Second Pass | NW_016107303.1 | Chr19|NW_0 16107303.1 | 1 | 293,522 |
nssv13601621 | Remapped | Pass | NW_016107303.1:g.( ?_1)_(293522_?)dup | GRCh38.p12 | Second Pass | NW_016107303.1 | Chr19|NW_0 16107303.1 | 1 | 293,522 |
nssv13594704 | Remapped | Good | NW_003571054.1:g.( ?_357709)_(843827_ ?)dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 357,709 | 843,827 |
nssv13601621 | Remapped | Good | NW_003571054.1:g.( ?_357709)_(843827_ ?)dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 357,709 | 843,827 |
nssv13594704 | Remapped | Pass | NC_000019.10:g.(?_ 54451197)_(5491198 5_?)dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,451,197 | 54,911,985 |
nssv13601621 | Remapped | Pass | NC_000019.10:g.(?_ 54451197)_(5491198 5_?)dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,451,197 | 54,911,985 |
nssv13594704 | Remapped | Pass | NW_004166865.1:g.( ?_667012)_(914797_ ?)dup | GRCh37.p13 | First Pass | NW_004166865.1 | Chr19|NW_0 04166865.1 | 667,012 | 914,797 |
nssv13601621 | Remapped | Pass | NW_004166865.1:g.( ?_667012)_(914797_ ?)dup | GRCh37.p13 | First Pass | NW_004166865.1 | Chr19|NW_0 04166865.1 | 667,012 | 914,797 |
nssv13594704 | Submitted genomic | NC_000019.8:g.(?_5 9654186)_(60143609 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 59,654,186 | 60,143,609 | ||
nssv13601621 | Submitted genomic | NC_000019.8:g.(?_5 9654186)_(60143609 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 59,654,186 | 60,143,609 |