A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057454



Internal ID18799985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48240212..48274391hg38UCSC Ensembl
Innerchr19:48743469..48777648hg19UCSC Ensembl
Innerchr19:53435281..53469460hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3834180
hg1934180
hg1834180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3574959
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)nsv1057454
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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