A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000716



Internal ID19192731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:56673271..56771472hg38UCSC Ensembl
OuterchrY:58819399..58917600hg19UCSC Ensembl
CytobandYq12
Allele length
AssemblyAllele length
hg3898202
hg1998202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149412
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000716
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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