A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000333



Internal ID19189916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:45681055..45681449hg38UCSC Ensembl
Outerchr18:43261020..43261414hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38395
hg19395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148300
Supporting Variants
SamplesKWB1
Known GenesSLC14A2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000333
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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