A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5046



Internal ID15549816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:144456383..144487800hg38UCSC Ensembl
Outerchr5:143835946..143867363hg19UCSC Ensembl
Outerchr5:143816139..143847556hg18UCSC Ensembl
Outerchr5:143816139..143847556hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg387861
hg197861
hg187861
hg177861
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4865
SamplesNA19129
Known GenesKCTD16
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)nsv5046
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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