A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978422



Internal ID19244464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:622165..652865hg38UCSC Ensembl
OuterchrY:532900..563600hg19UCSC Ensembl
CytobandYp11.32
Allele length
AssemblyAllele length
hg3830701
hg1930701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140086
Supporting Variants
SamplesKWS2
Known GenesSHOX
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978422
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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