A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705789



Internal ID15442441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:50360828..50415344hg38UCSC Ensembl
Innerchr18:47887198..47941714hg19UCSC Ensembl
Innerchr18:46141196..46195712hg18UCSC Ensembl
Innerchr18:46141196..46195712hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3854517
hg1954517
hg1854517
hg1754517
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522433
Supporting Variants
Samples
Known GenesSKA1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705789
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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