A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2559



Internal ID15540560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178573054..178596201hg38UCSC Ensembl
Outerchr5:178000055..178023202hg19UCSC Ensembl
Outerchr5:177932661..177955808hg18UCSC Ensembl
Outerchr5:177932661..177955808hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3811882
hg1911882
hg1811882
hg1711882
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5153
Supporting Variants
SamplesNA18555
Known GenesCOL23A1
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)nssv2559
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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