A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4867



Internal ID15549619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:67943111..67975404hg38UCSC Ensembl
Outerchr5:67238939..67271232hg19UCSC Ensembl
Outerchr5:67274695..67306988hg18UCSC Ensembl
Outerchr5:67274695..67306988hg17UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg387146
hg197146
hg187146
hg177146
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6002
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)nsv4867
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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