A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2327



Internal ID15546890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:59843729..59877788hg38UCSC Ensembl
Outerchr18:57510961..57545020hg19UCSC Ensembl
Outerchr18:55661941..55696000hg18UCSC Ensembl
Outerchr18:55661941..55696000hg17UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg385374
hg195374
hg185374
hg175374
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7407
SamplesNA12156
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)nsv2327
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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