A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998040



Internal ID18841286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:24178852..24214853hg38UCSC Ensembl
OuterchrY:26324999..26361000hg19UCSC Ensembl
CytobandYq11.23
Allele length
AssemblyAllele length
hg3836002
hg1936002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153003
Supporting Variants
SamplesKWB1
Known GenesCSPG4P1Y, GOLGA2P2Y, GOLGA2P3Y
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998040
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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