A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519046



Internal ID15099653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45518592..45525075hg38UCSC Ensembl
Innerchr2:45745731..45752214hg19UCSC Ensembl
Innerchr2:45599235..45605718hg18UCSC Ensembl
Innerchr2:45657382..45663865hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg386484
hg196484
hg186484
hg176484
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696517
Samples
Known GenesSRBD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519046
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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