A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999947



Internal ID19192753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:21549813..21568414hg38UCSC Ensembl
OuterchrY:23711699..23730300hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3818602
hg1918602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152764
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999947
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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