A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959021



Internal ID19208470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132731714..132733414hg38UCSC Ensembl
Outerchr12:133308300..133310000hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118512
Supporting Variants
SamplesKWS1
Known GenesANKLE2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959021
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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