A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1399



Internal ID15544312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:24494163..24528907hg38UCSC Ensembl
Outerchr18:22074127..22108871hg19UCSC Ensembl
Outerchr18:20328125..20362869hg18UCSC Ensembl
Outerchr18:20328125..20362869hg17UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg386250
hg196250
hg186250
hg176250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2230
Supporting Variants
SamplesNA19240
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)nssv1399
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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