A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078



Internal ID15545641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:68660341..68712870hg38UCSC Ensembl
Outerchr13:69234473..69287002hg19UCSC Ensembl
Outerchr13:68132474..68185003hg18UCSC Ensembl
Outerchr13:68132474..68185003hg17UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3852530
hg1952530
hg1852530
hg1752530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10914
SamplesNA15510
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)nsv1078
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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