A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16287565



Internal ID20496783
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 StatusS
Merged Variantsnsv4756486
Supporting Variants
Samples
Known GenesCACNA1H
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16287565
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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