A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2349



Internal ID15546912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:71053867..71088714hg38UCSC Ensembl
Outerchr18:68721103..68755950hg19UCSC Ensembl
Outerchr18:66872083..66906930hg18UCSC Ensembl
Outerchr18:66872083..66906930hg17UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg384893
hg194893
hg184893
hg174893
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4332
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)nsv2349
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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