A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205319



Internal ID20772359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:183121263..183134192hg38UCSC Ensembl
chr2:183985991..183998920hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3812930
hg1912930
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6355450
Supporting Variants
Samples
Known GenesNUP35
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205319
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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