A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519897



Internal ID8414172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:56912285..56912509hg38UCSC Ensembl
Innerchr16:56946197..56946421hg19UCSC Ensembl
Innerchr16:55503698..55503922hg18UCSC Ensembl
Innerchr16:55503698..55503922hg17UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38225
hg19225
hg18225
hg17225
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697113
Samples
Known GenesSLC12A3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519897
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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