A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521388



Internal ID15448681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:58539723..58546158hg38UCSC Ensembl
Innerchr18:56206955..56213390hg19UCSC Ensembl
Innerchr18:54357935..54364370hg18UCSC Ensembl
Innerchr18:54357935..54364370hg17UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg386436
hg196436
hg186436
hg176436
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697998
Samples
Known GenesALPK2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521388
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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