A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002565



Internal ID19190559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:18505713..18518614hg38UCSC Ensembl
OuterchrY:20667599..20680500hg19UCSC Ensembl
CytobandYq11.222
Allele length
AssemblyAllele length
hg3812902
hg1912902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149055
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002565
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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