A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245996



Internal ID22050606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53746742..53746742hg38UCSC Ensembl
chr8:54659302..54659302hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839486
Samples
Known GenesATP6V1H
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245996
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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