A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075



Internal ID15545638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:67724742..67769185hg38UCSC Ensembl
Outerchr13:68298874..68343317hg19UCSC Ensembl
Outerchr13:67196875..67241318hg18UCSC Ensembl
Outerchr13:67196875..67241318hg17UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3844444
hg1944444
hg1844444
hg1744444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2042
SamplesNA18555
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)nsv1075
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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