A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2563



Internal ID15540556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179578209..179608738hg38UCSC Ensembl
Outerchr5:179005210..179035739hg19UCSC Ensembl
Outerchr5:178937816..178968345hg18UCSC Ensembl
Outerchr5:178937816..178968345hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg389498
hg199498
hg189498
hg179498
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5159
Supporting Variants
SamplesNA18555
Known GenesRUFY1
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)nssv2563
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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