A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2367



Internal ID15546930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78247486..78282174hg38UCSC Ensembl
Outerchr18:76007486..76042174hg19UCSC Ensembl
Outerchr18:74108474..74143162hg18UCSC Ensembl
Outerchr18:74108474..74143162hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg386301
hg196301
hg186301
hg176301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1426
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)nsv2367
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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