A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2316



Internal ID15546879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:56320213..56353286hg38UCSC Ensembl
Outerchr18:53987444..54020517hg19UCSC Ensembl
Outerchr18:52138442..52171515hg18UCSC Ensembl
Outerchr18:52138442..52171515hg17UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg386206
hg196206
hg186206
hg176206
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5706
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)nsv2316
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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