A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1192



Internal ID15545755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112795857..112829187hg38UCSC Ensembl
Outerchr13:113450171..113483501hg19UCSC Ensembl
Outerchr13:112498172..112531502hg18UCSC Ensembl
Outerchr13:112498172..112531502hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg387661
hg197661
hg187661
hg177661
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174
SamplesNA19240
Known GenesATP11A
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)nsv1192
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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