A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2275



Internal ID15200152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:45472296..45516936hg38UCSC Ensembl
Outerchr18:43052261..43096901hg19UCSC Ensembl
Outerchr18:41306259..41350899hg18UCSC Ensembl
Outerchr18:41306259..41350899hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3844641
hg1944641
hg1844641
hg1744641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7390
SamplesNA12156
Known GenesSLC14A2
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)nsv2275
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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