A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2235



Internal ID15546798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:26553765..26563913hg38UCSC Ensembl
Outerchr18:24133729..24143877hg19UCSC Ensembl
Outerchr18:22387727..22397875hg18UCSC Ensembl
Outerchr18:22387727..22397875hg17UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3810149
hg1910149
hg1810149
hg1710149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7374
SamplesNA12156
Known GenesKCTD1
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)nsv2235
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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