A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10475



Internal ID15542323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:136067438..136098797hg38UCSC Ensembl
Outerchr5:135403127..135434486hg19UCSC Ensembl
Outerchr5:135431026..135462385hg18UCSC Ensembl
Outerchr5:135431026..135462385hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg388119
hg198119
hg188119
hg178119
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5017
Supporting Variants
SamplesNA18956
Known GenesVTRNA2-1
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)nssv10475
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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