A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062941



Internal ID18805472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:46758338..46865807hg38UCSC Ensembl
Innerchr19:47261595..47369064hg19UCSC Ensembl
Innerchr19:51953435..52060904hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38107470
hg19107470
hg18107470
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3608n100
Supporting Variantsnssv3573804
Samples
Known GenesAP2S1, FKRP, SLC1A5, SNAR-E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062941
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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