A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976392



Internal ID18892449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:25283609..25287209hg38UCSC Ensembl
Outerchr1:25610100..25613700hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg383601
hg193601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115341
Supporting Variants
SamplesKWS2
Known GenesRHD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976392
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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