A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064



Internal ID15545627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:58761878..58782603hg38UCSC Ensembl
Outerchr13:59336012..59356737hg19UCSC Ensembl
Outerchr13:58234013..58254738hg18UCSC Ensembl
Outerchr13:58234013..58254738hg17UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3820726
hg1920726
hg1820726
hg1720726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9130
SamplesNA12156
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)nsv1064
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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