A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4727



Internal ID15549465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:14631382..14657209hg38UCSC Ensembl
Outerchr5:14631491..14657318hg19UCSC Ensembl
Outerchr5:14684491..14710318hg18UCSC Ensembl
Outerchr5:14684491..14710318hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg385658
hg195658
hg185658
hg175658
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8071, nssv450
SamplesNA12156, NA19240
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)nsv4727
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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