A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv947



Internal ID15198429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:71563061..71567565hg38UCSC Ensembl
Outerchr10:73322818..73327322hg19UCSC Ensembl
Outerchr10:72992824..72997328hg18UCSC Ensembl
Outerchr10:72992824..72997328hg17UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg388069
hg198069
hg188069
hg178069
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7099
Supporting Variants
SamplesNA19240
Known GenesCDH23
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)nssv947
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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