A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2418



Internal ID15546981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12494159..12518665hg38UCSC Ensembl
Outerchr19:12604973..12629479hg19UCSC Ensembl
Outerchr19:12465973..12490479hg18UCSC Ensembl
Outerchr19:12465973..12490479hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3824507
hg1924507
hg1824507
hg1724507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4645
SamplesNA19129
Known Genes
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)nsv2418
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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