A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064473



Internal ID18807004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41916961..41987372hg38UCSC Ensembl
Innerchr19:42421113..42491524hg19UCSC Ensembl
Innerchr19:47112953..47183364hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3870412
hg1970412
hg1870412
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3550n100
Supporting Variantsnssv3567542
Samples
Known GenesATP1A3, RABAC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064473
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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