A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17007888



Internal ID72885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:615928..1447488hg38UCSC Ensembl
chr8:565928..1395654hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38831561
hg19829727
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5492134
Supporting Variants
Samples
Known GenesERICH1, ERICH1-AS1, LOC286083
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17007888
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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