A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10474



Internal ID15195638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:135289703..135322105hg38UCSC Ensembl
Outerchr5:134625393..134657795hg19UCSC Ensembl
Outerchr5:134653292..134685694hg18UCSC Ensembl
Outerchr5:134653292..134685694hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg387109
hg197109
hg187109
hg177109
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5015
Supporting Variants
SamplesNA18956
Known GenesC5orf66
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)nssv10474
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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