A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2462



Internal ID15547025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:33025427..33070136hg38UCSC Ensembl
Outerchr19:33516333..33561042hg19UCSC Ensembl
Outerchr19:38208173..38252882hg18UCSC Ensembl
Outerchr19:38208173..38252882hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3844710
hg1944710
hg1844710
hg1744710
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7437
SamplesNA12156
Known GenesRHPN2
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)nsv2462
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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