A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5036



Internal ID15203119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141978308..142008100hg38UCSC Ensembl
Outerchr5:141357873..141387665hg19UCSC Ensembl
Outerchr5:141338057..141367849hg18UCSC Ensembl
Outerchr5:141338057..141367849hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg385847
hg195847
hg185847
hg175847
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2710
SamplesNA18555
Known GenesGNPDA1, RNF14
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)nsv5036
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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