A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6501020



Internal ID20874250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88734841..89141580hg38UCSC Ensembl
chr16:88801249..89207988hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38406740
hg19406740
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18183938
Samples
Known GenesACSF3, APRT, CBFA2T3, CDT1, GALNS, LOC100289580, PABPN1L, PIEZO1, TRAPPC2L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6501020
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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