A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517096



Internal ID293526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2524018..2524651hg38UCSC Ensembl
chr16:2574019..2574652hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38634
hg19634
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706782
Samples
Known GenesAMDHD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517096
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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