A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208956



Internal ID20775996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130619701..130986505hg38UCSC Ensembl
chr3:130338545..130705349hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38366805
hg19366805
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6360060
Supporting Variants
Samples
Known GenesATP2C1, COL6A6, PIK3R4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208956
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