A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5876287



Internal ID22651247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43976376..43976585hg38UCSC Ensembl
chr1:44442048..44442257hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376113
Samples
Known GenesATP6V0B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5876287
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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