A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3964813



Internal ID18891749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:24696421..24696757hg38UCSC Ensembl
Outerchr13:25270559..25270895hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1111904
Supporting Variants
SamplesKWS2
Known GenesATP12A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3964813
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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