A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214776



Internal ID20781816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8872001..9266800hg38UCSC Ensembl
chr4:8873727..9268526hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38394800
hg19394800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6363670
Supporting Variants
Samples
Known GenesLOC650293, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214776
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00552


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