A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515609



Internal ID15443220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:46643402..46683274hg38UCSC Ensembl
Innerchr18:44223365..44263237hg19UCSC Ensembl
Innerchr18:42477363..42517235hg18UCSC Ensembl
Innerchr18:42477363..42517235hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3839873
hg1939873
hg1839873
hg1739873
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv655588, nssv664081
Samples
Known GenesLOXHD1, ST8SIA5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515609
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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