A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4004010



Internal ID19187003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:222895480..222897955hg38UCSC Ensembl
Outerchr2:223760198..223762673hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382476
hg192476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151451
Supporting Variants
SamplesKWB1
Known GenesACSL3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4004010
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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