A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5014



Internal ID15549781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:135096185..135129740hg38UCSC Ensembl
Outerchr5:134431875..134465430hg19UCSC Ensembl
Outerchr5:134459774..134493329hg18UCSC Ensembl
Outerchr5:134459774..134493329hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg385719
hg195719
hg185719
hg175719
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4862
SamplesNA19129
Known GenesC5orf66
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)nsv5014
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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