A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993264



Internal ID19239057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120988243..120988307hg38UCSC Ensembl
Outerchr12:121426046..121426110hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141758
Supporting Variants
SamplesKWS2
Known GenesHNF1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993264
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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