A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2517



Internal ID15200394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48092384..48111291hg38UCSC Ensembl
Outerchr19:48595641..48614548hg19UCSC Ensembl
Outerchr19:53287453..53306360hg18UCSC Ensembl
Outerchr19:53287453..53306360hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg388120
hg198120
hg188120
hg178120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1461
SamplesNA19240
Known GenesPLA2G4C
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)nsv2517
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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