A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976492



Internal ID19235172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:116374895..116376195hg38UCSC Ensembl
Outerchr12:116812700..116814000hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115438
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976492
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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