A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704194



Internal ID15094160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:50818407..50888556hg38UCSC Ensembl
Innerchr18:48344777..48414926hg19UCSC Ensembl
Innerchr18:46598775..46668924hg18UCSC Ensembl
Innerchr18:46598775..46668924hg17UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3870150
hg1970150
hg1870150
hg1770150
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527714
Supporting Variants
Samples
Known GenesME2, MRO
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704194
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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