A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517500



Internal ID293920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6794185..6796087hg38UCSC Ensembl
chr17:6697504..6699406hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381903
hg191903
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711144
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517500
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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