A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997735



Internal ID19193217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:64287819..64291020hg38UCSC Ensembl
Outerchr12:64681599..64684800hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg383202
hg193202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148950
Supporting Variants
SamplesKWB1
Known GenesC12orf56
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997735
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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