A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148



Internal ID15544588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:57661722..57693159hg38UCSC Ensembl
Outerchr13:58235856..58267293hg19UCSC Ensembl
Outerchr13:57133857..57165294hg18UCSC Ensembl
Outerchr13:57133857..57165294hg17UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg389560
hg199560
hg189560
hg179560
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060
Supporting Variants
SamplesNA19240
Known GenesPCDH17
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)nssv1148
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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