A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000336



Internal ID19186638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:143964774..143971076hg38UCSC Ensembl
Outerchr1:120839899..120846200hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg386303
hg196302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148298
Supporting Variants
SamplesKWB1
Known GenesFAM72B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000336
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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