A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979590



Internal ID19232571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:96226533..96226593hg38UCSC Ensembl
Outerchr12:96620311..96620371hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142812
Supporting Variants
SamplesKWS2
Known GenesELK3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979590
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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