A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996723



Internal ID19194433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:17060819..17090420hg38UCSC Ensembl
OuterchrY:19172699..19202300hg19UCSC Ensembl
CytobandYq11.221
Allele length
AssemblyAllele length
hg3829602
hg1929602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152116
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996723
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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