A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2461



Internal ID15547024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:31155441..31172158hg38UCSC Ensembl
Outerchr19:31646347..31663064hg19UCSC Ensembl
Outerchr19:36338187..36354904hg18UCSC Ensembl
Outerchr19:36338187..36354904hg17UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3819982
hg1919982
hg1819982
hg1719982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9552
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)nsv2461
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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