A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2258



Internal ID15546821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:37159819..37204242hg38UCSC Ensembl
Outerchr18:34739782..34784205hg19UCSC Ensembl
Outerchr18:32993780..33038203hg18UCSC Ensembl
Outerchr18:32993780..33038203hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3844424
hg1944424
hg1844424
hg1744424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4643
SamplesNA19129
Known GenesKIAA1328
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)nsv2258
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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