A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5472



Internal ID15197314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:41251824..41284351hg38UCSC Ensembl
Outerchr13:41825960..41858487hg19UCSC Ensembl
Outerchr13:40723960..40756487hg18UCSC Ensembl
Outerchr13:40723960..40756487hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg386754
hg196754
hg186754
hg176754
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1015
Supporting Variants
SamplesNA19129
Known GenesMTRF1
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)nssv5472
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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