A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015



Internal ID15198892
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 StatusM
Merged Variants
Supporting Variantsnssv5472
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)nsv1015
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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