A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2274



Internal ID8513819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:44875732..44909903hg38UCSC Ensembl
Outerchr18:42455697..42489868hg19UCSC Ensembl
Outerchr18:40709695..40743866hg18UCSC Ensembl
Outerchr18:40709695..40743866hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg385266
hg195266
hg185266
hg175266
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7389
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)nsv2274
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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