A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3574947



Internal ID18526542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48232030..48274391hg38UCSC Ensembl
Innerchr19:48735287..48777648hg19UCSC Ensembl
Innerchr19:53427099..53469460hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3842362
hg1942362
hg1842362
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1059268
Supporting Variants
Samples
Known GenesCARD8, LOC100505812, ZNF114
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3574947
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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