A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061652



Internal ID18804183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49087495..49142345hg38UCSC Ensembl
Innerchr19:49590752..49645602hg19UCSC Ensembl
Innerchr19:54282564..54337414hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3854851
hg1954851
hg1854851
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3620n100
Supporting Variantsnssv3574972
Samples
Known GenesC19orf73, LIN7B, PPFIA3, SNRNP70
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061652
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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