A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10130



Internal ID15195982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:66637938..66652441hg38UCSC Ensembl
Outerchr17:64634056..64648559hg19UCSC Ensembl
Outerchr17:62064518..62079021hg18UCSC Ensembl
Outerchr17:62064518..62079021hg17UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg387438
hg197438
hg187438
hg177438
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2126
Supporting Variants
SamplesNA18956
Known GenesPRKCA
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)nssv10130
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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