A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4306



Internal ID15539033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:22083117..22116610hg38UCSC Ensembl
Outerchr18:19663078..19696571hg19UCSC Ensembl
Outerchr18:17917076..17950569hg18UCSC Ensembl
Outerchr18:17917076..17950569hg17UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg386253
hg196253
hg186253
hg176253
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2223
Supporting Variants
SamplesNA12878
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)nssv4306
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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