A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997846



Internal ID19189619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:192268673..192274274hg38UCSC Ensembl
Outerchr2:193133399..193139000hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg385602
hg195602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152813
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997846
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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