A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv655588



Internal ID15392240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:46643402..46672311hg38UCSC Ensembl
Innerchr18:44223365..44252274hg19UCSC Ensembl
Innerchr18:42477363..42506272hg18UCSC Ensembl
Innerchr18:42477363..42506272hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3828910
hg1928910
hg1828910
hg1728910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515609
Supporting Variants
Samples
Known GenesLOXHD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv655588
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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