A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209187



Internal ID20776227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:168573012..168601551hg38UCSC Ensembl
chr3:168290800..168319339hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3828540
hg1928540
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6356350
Supporting Variants
Samples
Known GenesEGFEM1P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209187
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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