A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066481



Internal ID18809012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:15197257..15228281hg38UCSC Ensembl
Innerchr19:15308068..15339092hg19UCSC Ensembl
Innerchr19:15169068..15200092hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3831025
hg1931025
hg1831025
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3442n100
Supporting Variantsnssv3564791, nssv3564790
Samples
Known GenesEPHX3, NOTCH3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066481
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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