A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4756486



Internal ID20532346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1204774..1204774hg38UCSC Ensembl
chr16:1254774..1254774hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16287565
Samples
Known GenesCACNA1H
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4756486
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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