A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2126



Internal ID15200003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:66632075..66652441hg38UCSC Ensembl
Outerchr17:64628193..64648559hg19UCSC Ensembl
Outerchr17:62058655..62079021hg18UCSC Ensembl
Outerchr17:62058655..62079021hg17UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg385600
hg195600
hg185600
hg175600
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4285, nssv10130
SamplesNA12878, NA18956
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)nsv2126
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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