A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960580



Internal ID19215891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:64365520..64367220hg38UCSC Ensembl
Outerchr12:64759300..64761000hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128667
Supporting Variants
SamplesKWS1
Known GenesC12orf56
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960580
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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