A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515735



Internal ID292213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30868154..30917671hg38UCSC Ensembl
chr17:29195172..29244689hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3849518
hg1949518
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712537
Samples
Known GenesATAD5, TEFM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515735
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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