A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976391



Internal ID18880884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:22577807..22579507hg38UCSC Ensembl
Outerchr1:22904300..22906000hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115340
Supporting Variants
SamplesKWS2
Known GenesEPHA8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976391
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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