A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145158



Internal ID344363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20347193..20490486hg38UCSC Ensembl
chr16:20358515..20501808hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38143294
hg19143294
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706173
Samples
Known GenesACSM2A, ACSM5, PDILT, UMOD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145158
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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