A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999673



Internal ID18840544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8864289..8865272hg38UCSC Ensembl
Outerchr12:9016885..9017868hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38984
hg19984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152492
Supporting Variants
SamplesKWB1
Known GenesA2ML1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999673
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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