A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522277



Internal ID298548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77451883..77567012hg38UCSC Ensembl
chr17:75447965..75563094hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38115130
hg19115130
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714776
Samples
Known GenesLOC100507351, SEPT9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522277
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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