A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001313



Internal ID19191296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:206907875..206911876hg38UCSC Ensembl
Outerchr2:207772599..207776600hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg384002
hg194002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153398
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001313
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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