A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714776



Internal ID138442
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 StatusS
Merged Variantsnsv5522277
Supporting Variants
Samples
Known GenesLOC100507351, SEPT9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714776
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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