A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977969



Internal ID19243340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:56821553..56919952hg38UCSC Ensembl
OuterchrY:58967700..59066100hg19UCSC Ensembl
CytobandYq12
Allele length
AssemblyAllele length
hg3898400
hg1998401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125164
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977969
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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