A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514901



Internal ID291389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77945579..77946713hg38UCSC Ensembl
chr17:75941661..75942795hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381135
hg191135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714816
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514901
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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