A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977951



Internal ID19238528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:1589507..1603607hg38UCSC Ensembl
OuterchrY:1658400..1672500hg19UCSC Ensembl
CytobandYp11.32
Allele length
AssemblyAllele length
hg3814101
hg1914101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125145
Supporting Variants
SamplesKWS2
Known GenesAKAP17A, ASMT
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977951
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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