A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4285



Internal ID15192326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:66632075..66643354hg38UCSC Ensembl
Outerchr17:64628193..64639472hg19UCSC Ensembl
Outerchr17:62058655..62069934hg18UCSC Ensembl
Outerchr17:62058655..62069934hg17UCSC 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 StatusS
Merged Variantsnsv2126
Supporting Variants
SamplesNA12878
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)nssv4285
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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