A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997094



Internal ID19190135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:222616981..222617256hg38UCSC Ensembl
Outerchr2:223481700..223481975hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1145735
Supporting Variants
SamplesKWB1
Known GenesFARSB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997094
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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