A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv503



Internal ID15545012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:149531070..149563853hg38UCSC Ensembl
Outerchr5:148910633..148943416hg19UCSC Ensembl
Outerchr5:148890826..148923609hg18UCSC Ensembl
Outerchr5:148890826..148923609hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg388205
hg198205
hg188205
hg178205
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5059
Supporting Variants
SamplesNA19240
Known GenesCSNK1A1
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)nssv503
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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