A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1189



Internal ID15545752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112253042..112344693hg38UCSC Ensembl
Outerchr13:112907356..112999007hg19UCSC Ensembl
Outerchr13:111955357..112047008hg18UCSC Ensembl
Outerchr13:111955357..112047008hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3891652
hg1991652
hg1891652
hg1791652
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4093, nssv9298, nssv2056, nssv10006, nssv6579
SamplesNA12156, NA12878, NA18956, NA18555, NA18517
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)nsv1189
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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