A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000852



Internal ID19189993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:17507519..17519320hg38UCSC Ensembl
OuterchrY:19619399..19631200hg19UCSC Ensembl
CytobandYq11.221
Allele length
AssemblyAllele length
hg3811802
hg1911802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149548
Supporting Variants
SamplesKWB1
Known GenesFAM41AY1, FAM41AY2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000852
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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