A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2273



Internal ID8513818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:44803264..44848882hg38UCSC Ensembl
Outerchr18:42383229..42428847hg19UCSC Ensembl
Outerchr18:40637227..40682845hg18UCSC Ensembl
Outerchr18:40637227..40682845hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3845619
hg1945619
hg1845619
hg1745619
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6755
SamplesNA12156
Known GenesSETBP1
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)nsv2273
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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