A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3966729



Internal ID18887631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121580195..121580595hg38UCSC Ensembl
Outerchr12:122018100..122018500hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112620
Supporting Variants
SamplesKWS2
Known GenesKDM2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3966729
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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