A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5896558



Internal ID22671652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113760464..113762303hg38UCSC Ensembl
chr3:113479311..113481150hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg381840
hg191840
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398808
Samples
Known GenesATP6V1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5896558
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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