A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572631



Internal ID16360040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55688478..55703744hg38UCSC Ensembl
Innerchr16:55722390..55737656hg19UCSC Ensembl
Innerchr16:54279891..54295157hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3815267
hg1915267
hg1815267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149656
SamplesHGDP01011
Known GenesSLC6A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572631
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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