A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10125



Internal ID15542672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46034385..46065659hg38UCSC Ensembl
Outerchr17:44111751..44143025hg19UCSC Ensembl
Outerchr17:41467598..41498847hg18UCSC Ensembl
Outerchr17:41467598..41498847hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg388255
hg198255
hg188255
hg178255
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2069
Supporting Variants
SamplesNA18956
Known GenesKANSL1
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)nssv10125
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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