A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205421



Internal ID20772461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190178801..190183500hg38UCSC Ensembl
chr2:191043527..191048226hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6341296
Supporting Variants
Samples
Known GenesC2orf88
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205421
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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