A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011954



Internal ID19101172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17268389..17290602hg38UCSC Ensembl
Innerchr1:17594884..17617097hg19UCSC Ensembl
Innerchr1:17467471..17489684hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3822214
hg1922214
hg1822214
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3470184, nssv3482059, nssv3477036, nssv3700287
Samples
Known GenesPADI3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011954
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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