A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3762776



Internal ID19308812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116374994..116376195hg38UCSC Ensembl
chr12:116812799..116814000hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg381202
hg191202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1076391
Supporting Variants
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3762776
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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