A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458984



Internal ID15172363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110143318..110217118hg38UCSC Ensembl
Innerchr2:110900895..110974695hg19UCSC Ensembl
Innerchr2:110258184..110331984hg18UCSC Ensembl
Innerchr2:110258270..110332070hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3873801
hg1973801
hg1873801
hg1773801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535832
SamplesHGDP00029
Known GenesLINC00116, NPHP1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv458984
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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