A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4514



Internal ID15539241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240209833..240244596hg38UCSC Ensembl
Outerchr2:241149250..241184013hg19UCSC Ensembl
Outerchr2:240797923..240832686hg18UCSC Ensembl
Outerchr2:240869240..240904003hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg384980
hg194980
hg184980
hg174980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238
Supporting Variants
SamplesNA12878
Known Genes
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)nssv4514
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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