A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000585



Internal ID19187548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:37519838..37519889hg38UCSC Ensembl
Outerchr2:37746981..37747032hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148548
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000585
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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