A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4865



Internal ID15549617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:67734596..67767004hg38UCSC Ensembl
Outerchr5:67030424..67062832hg19UCSC Ensembl
Outerchr5:67066180..67098588hg18UCSC Ensembl
Outerchr5:67066180..67098588hg17UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg387013
hg197013
hg187013
hg177013
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6001
SamplesNA12156
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)nsv4865
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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