A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17034009



Internal ID90370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:62816987..62817060hg38UCSC Ensembl
chr10:64576747..64576820hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5482729
Supporting Variants
Samples
Known GenesEGR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17034009
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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