nsv4670849
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:54
- Description:nsv4625763 from DECIPHER Consensus CNVs. 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: 344 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 264 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 258 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 262 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 302 SVs from 53 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4670849 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,220,709 | 54,220,762 |
nsv4670849 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 195,693 | 195,746 |
nsv4670849 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 195,697 | 195,750 |
nsv4670849 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 195,509 | 195,562 |
nsv4670849 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,724,579 | 54,724,632 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16191041 | duplication | Curated | Curated |
nssv16205089 | deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16191041 | Remapped | Perfect | NT_187693.1:g.(?_1 95693)_(195746_?)d up | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 195,693 | 195,746 |
nssv16205089 | Remapped | Perfect | NT_187693.1:g.(?_1 95693)_(195746_?)d el | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 195,693 | 195,746 |
nssv16191041 | Remapped | Perfect | NW_003571060.1:g.( ?_195697)_(195750_ ?)dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 195,697 | 195,750 |
nssv16205089 | Remapped | Perfect | NW_003571060.1:g.( ?_195697)_(195750_ ?)del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 195,697 | 195,750 |
nssv16191041 | Remapped | Perfect | NW_003571054.1:g.( ?_195509)_(195562_ ?)dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 195,509 | 195,562 |
nssv16205089 | Remapped | Perfect | NW_003571054.1:g.( ?_195509)_(195562_ ?)del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 195,509 | 195,562 |
nssv16191041 | Remapped | Perfect | NC_000019.10:g.(?_ 54220709)_(5422076 2_?)dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,220,709 | 54,220,762 |
nssv16205089 | Remapped | Perfect | NC_000019.10:g.(?_ 54220709)_(5422076 2_?)del | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,220,709 | 54,220,762 |
nssv16191041 | Submitted genomic | NC_000019.9:g.(?_5 4724579)_(54724632 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,724,579 | 54,724,632 | ||
nssv16205089 | Submitted genomic | NC_000019.9:g.(?_5 4724579)_(54724632 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,724,579 | 54,724,632 |
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) |
---|---|---|---|
nssv16191041 | 0.017 | 14 | 845 |
nssv16205089 | 0.085 | 72 | 845 |