A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2518



Internal ID15200395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49452273..49465137hg38UCSC Ensembl
Outerchr19:49955530..49968394hg19UCSC Ensembl
Outerchr19:54647342..54660206hg18UCSC Ensembl
Outerchr19:54647342..54660206hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg387445
hg197445
hg187445
hg177445
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001
SamplesNA18555
Known GenesALDH16A1
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)nsv2518
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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