A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193590



Internal ID20760630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20541727..20721803hg38UCSC Ensembl
chr16:20553049..20733125hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38180077
hg19180077
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6503546
Supporting Variants
Samples
Known GenesACSM1, ACSM2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193590
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer