A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2532



Internal ID15540590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:90153852..90168592hg38UCSC Ensembl
Outerchr5:89449669..89464409hg19UCSC Ensembl
Outerchr5:89485425..89500165hg18UCSC Ensembl
Outerchr5:89485425..89500165hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg387213
hg197213
hg187213
hg177213
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4912
Supporting Variants
SamplesNA18555
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)nssv2532
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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