A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv787440



Internal ID15734710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8697651..8698822hg38UCSC Ensembl
Innerchr12:8850247..8851418hg19UCSC Ensembl
Innerchr12:8741514..8742685hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381172
hg191172
hg181172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557346
Supporting Variants
Samples
Known GenesRIMKLB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv787440
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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