A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515200



Internal ID291685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78425912..78426027hg38UCSC Ensembl
chr17:76421993..76422108hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714856
Samples
Known GenesDNAH17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515200
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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