A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2259



Internal ID15200136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:37500175..37545406hg38UCSC Ensembl
Outerchr18:35080138..35125369hg19UCSC Ensembl
Outerchr18:33334136..33379367hg18UCSC Ensembl
Outerchr18:33334136..33379367hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3845232
hg1945232
hg1845232
hg1745232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7380
SamplesNA12156
Known GenesCELF4
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)nsv2259
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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