A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv897470



Internal ID15844740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:29185365..29401390hg38UCSC Ensembl
Innerchr19:29676272..29892297hg19UCSC Ensembl
Innerchr19:34368112..34584137hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38216026
hg19216026
hg18216026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv579240
Supporting Variants
Samples
Known GenesLOC284395, UQCRFS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv897470
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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