A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3167



Internal ID15201063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:218505519..218538274hg38UCSC Ensembl
Outerchr2:219370242..219402997hg19UCSC Ensembl
Outerchr2:219078486..219111241hg18UCSC Ensembl
Outerchr2:219195747..219228502hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg386508
hg196508
hg186508
hg176508
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5848
SamplesNA19129
Known GenesUSP37
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv3167
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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