A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064109



Internal ID18806640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:57135647..57205713hg38UCSC Ensembl
Innerchr19:57647015..57717081hg19UCSC Ensembl
Innerchr19:62338827..62408893hg18UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3870067
hg1970067
hg1870067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3570450
Samples
Known GenesDUXA, ZIM3, ZNF264
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064109
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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