A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv785861



Internal ID15733131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:498060..513760hg38UCSC Ensembl
Innerchr12:607226..622926hg19UCSC Ensembl
Innerchr12:477487..493187hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3815701
hg1915701
hg1815701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv556877
Supporting Variants
Samples
Known GenesB4GALNT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv785861
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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