A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057279



Internal ID18799810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51722260..51847643hg38UCSC Ensembl
Innerchr19:52225513..52350896hg19UCSC Ensembl
Innerchr19:56917325..57042708hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38125384
hg19125384
hg18125384
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3625n100
Supporting Variantsnssv3575008
Samples
Known GenesFPR1, FPR2, FPR3, HAS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057279
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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