A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1190



Internal ID15545753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112270721..112295078hg38UCSC Ensembl
Outerchr13:112925035..112949392hg19UCSC Ensembl
Outerchr13:111973036..111997393hg18UCSC Ensembl
Outerchr13:111973036..111997393hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3811282
hg1911282
hg1811282
hg1711282
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10005, nssv2057, nssv6578, nssv1173
SamplesNA12156, NA18956, NA18555, NA19240
Known Genes
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)nsv1190
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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