A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3570450



Internal ID18522045
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 StatusS
Merged Variantsnsv1064109
Supporting Variants
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)nssv3570450
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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