A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1085



Internal ID15198962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:72802114..72832877hg38UCSC Ensembl
Outerchr13:73376252..73407015hg19UCSC Ensembl
Outerchr13:72274253..72305016hg18UCSC Ensembl
Outerchr13:72274253..72305016hg17UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg388670
hg198670
hg188670
hg178670
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6565
SamplesNA12156
Known GenesPIBF1
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)nsv1085
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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