A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529579



Internal ID305591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64095980..64143980hg38UCSC Ensembl
chr17:62173340..62221340hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3848001
hg1948001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714048
Samples
Known GenesERN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5529579
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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