A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990677



Internal ID19228142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:45781383..45801061hg38UCSC Ensembl
Outerchr12:46175166..46194844hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3819679
hg1919679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138128
Supporting Variants
SamplesKWS2
Known GenesARID2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990677
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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