A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv676080



Internal ID15412732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:50360828..50385261hg38UCSC Ensembl
Innerchr18:47887198..47911631hg19UCSC Ensembl
Innerchr18:46141196..46165629hg18UCSC Ensembl
Innerchr18:46141196..46165629hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3824434
hg1924434
hg1824434
hg1724434
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515672
Supporting Variants
Samples
Known GenesSKA1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv676080
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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