A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6496238



Internal ID20869438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20568551..20735008hg38UCSC Ensembl
chr16:20579873..20746330hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38166458
hg19166458
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2726n223
Supporting Variantsnssv18184110
Samples
Known GenesACSM1, ACSM2B, THUMPD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6496238
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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