A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2292



Internal ID15200169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:49003369..49048873hg38UCSC Ensembl
Outerchr18:46529739..46575243hg19UCSC Ensembl
Outerchr18:44783737..44829241hg18UCSC Ensembl
Outerchr18:44783737..44829241hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3845505
hg1945505
hg1845505
hg1745505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6761
SamplesNA12156
Known GenesDYM
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)nsv2292
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer