A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2247



Internal ID15200124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:31790879..31835749hg38UCSC Ensembl
Outerchr18:29370842..29415712hg19UCSC Ensembl
Outerchr18:27624840..27669710hg18UCSC Ensembl
Outerchr18:27624840..27669710hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3844871
hg1944871
hg1844871
hg1744871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7378
SamplesNA12156
Known GenesTRAPPC8
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)nsv2247
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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