A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2192



Internal ID15546755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:4483893..4521167hg38UCSC Ensembl
Outerchr18:4483893..4521167hg19UCSC Ensembl
Outerchr18:4473893..4511167hg18UCSC Ensembl
Outerchr18:4473893..4511167hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg386316
hg196316
hg186316
hg176316
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5688, nssv10145
SamplesNA18956, NA19129
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)nsv2192
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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