A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970411



Internal ID22745346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76788683..76788683hg38UCSC Ensembl
chr12:77182463..77182463hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358120
Samples
Known GenesZDHHC17
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970411
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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