A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205347



Internal ID20772387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:184783501..184951600hg38UCSC Ensembl
chr2:185648228..185816327hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38168100
hg19168100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6345304
Supporting Variants
Samples
Known GenesZNF804A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205347
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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