A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058714



Internal ID18801245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48224334..48256721hg38UCSC Ensembl
Innerchr19:48727591..48759978hg19UCSC Ensembl
Innerchr19:53419403..53451790hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3832388
hg1932388
hg1832388
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3613n100
Supporting Variantsnssv3574941, nssv3574942
Samples
Known GenesCARD8, LOC100505812
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058714
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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