A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6547587



Internal ID20920788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58831101..58923800hg38UCSC Ensembl
chr20:57406156..57498855hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3892700
hg1992700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203342
Samples
Known GenesGNAS, GNAS-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6547587
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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