A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943996



Internal ID22719454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8721874..8996311hg38UCSC Ensembl
chr16:8815731..9090168hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38274438
hg19274438
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380572
Samples
Known GenesABAT, CARHSP1, PMM2, TMEM186, USP7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943996
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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