A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059984



Internal ID18802515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:9859692..9998503hg38UCSC Ensembl
Innerchr19:9970368..10109179hg19UCSC Ensembl
Innerchr19:9831368..9970179hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38138812
hg19138812
hg18138812
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564687
Samples
Known GenesCOL5A3, OLFM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059984
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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