A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3982958



Internal ID18863745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:56033945..56034001hg38UCSC Ensembl
Outerchr12:56427729..56427785hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1119959
Supporting Variants
SamplesKWS1
Known GenesIKZF4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3982958
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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