A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3971745



Internal ID18882334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:110061716..110061783hg38UCSC Ensembl
Outerchr12:110499521..110499588hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1134262
Supporting Variants
SamplesKWS2
Known GenesC12orf76
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3971745
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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