A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18227291



Internal ID20794331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:133857601..134100100hg38UCSC Ensembl
chr7:133542354..133784853hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38242500
hg19242500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6424695
Supporting Variants
Samples
Known GenesEXOC4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18227291
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