A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv925271



Internal ID16219227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:167499722..167865029hg38UCSC Ensembl
Innerchr2:168356232..168721539hg19UCSC Ensembl
Innerchr2:168064478..168429785hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38365308
hg19365308
hg18365308
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv583592
Supporting Variants
Samples
Known GenesB3GALT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv925271
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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