A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2493



Internal ID15547056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41528011..41543735hg38UCSC Ensembl
Outerchr19:42034371..42050097hg19UCSC Ensembl
Outerchr19:46726211..46741937hg18UCSC Ensembl
Outerchr19:46726211..46741937hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3816190
hg1916190
hg1816190
hg1716190
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9555
SamplesNA18507
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)nsv2493
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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