A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003139



Internal ID18843990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:18990613..18993914hg38UCSC Ensembl
OuterchrY:21152499..21155800hg19UCSC Ensembl
CytobandYq11.222
Allele length
AssemblyAllele length
hg383302
hg193302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151713
Supporting Variants
SamplesKWB1
Known GenesCD24, TTTY14
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003139
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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