A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976720



Internal ID18887891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:125089054..125095954hg38UCSC Ensembl
Outerchr12:125573600..125580500hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg386901
hg196901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124665
Supporting Variants
SamplesKWS2
Known GenesAACS
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976720
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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