A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5705



Internal ID15543717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:54410189..54454939hg38UCSC Ensembl
Outerchr18:51936559..51981309hg19UCSC Ensembl
Outerchr18:50190557..50235307hg18UCSC Ensembl
Outerchr18:50190557..50235307hg17UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3844751
hg1944751
hg1844751
hg1744751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2313
Supporting Variants
SamplesNA19129
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)nssv5705
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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