A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557191



Internal ID15997914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5972658..6106468hg38UCSC Ensembl
Innerchr12:6081824..6215634hg19UCSC Ensembl
Innerchr12:5952085..6085895hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38133811
hg19133811
hg18133811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786997
Samples
Known GenesVWF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557191
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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