A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994060



Internal ID19236520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:56837982..56851323hg38UCSC Ensembl
OuterchrY:58984129..58997470hg19UCSC Ensembl
CytobandYq12
Allele length
AssemblyAllele length
hg3813342
hg1913342
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142573
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994060
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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