A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1194



Internal ID15545757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113238777..113271585hg38UCSC Ensembl
Outerchr13:113893091..113925899hg19UCSC Ensembl
Outerchr13:112941092..112973900hg18UCSC Ensembl
Outerchr13:112941092..112973900hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg386628
hg196628
hg186628
hg176628
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6580
SamplesNA12156
Known GenesCUL4A, MIR8075
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)nsv1194
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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