A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060593



Internal ID18803124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:11035657..11066013hg38UCSC Ensembl
Innerchr18:11035655..11066012hg19UCSC Ensembl
Innerchr18:11025655..11056012hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3830357
hg1930358
hg1830358
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564102
Samples
Known GenesPIEZO2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060593
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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