A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3963771



Internal ID19216711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1933112..1933197hg38UCSC Ensembl
Outerchr12:2042278..2042363hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1129530
Supporting Variants
SamplesKWS1
Known GenesLINC00940
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3963771
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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