A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2335



Internal ID15546898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:63530344..63534697hg38UCSC Ensembl
Outerchr18:61197577..61201930hg19UCSC Ensembl
Outerchr18:59348557..59352910hg18UCSC Ensembl
Outerchr18:59348557..59352910hg17UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg386715
hg196715
hg186715
hg176715
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5707
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)nsv2335
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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