A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999941



Internal ID19193181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:118148595..118148702hg38UCSC Ensembl
Outerchr2:118906171..118906278hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152762
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999941
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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