A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5701



Internal ID15543722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:50448614..50458712hg38UCSC Ensembl
Outerchr18:47974984..47985082hg19UCSC Ensembl
Outerchr18:46228982..46239080hg18UCSC Ensembl
Outerchr18:46228982..46239080hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg387311
hg197311
hg187311
hg177311
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2302
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)nssv5701
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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