A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5871206



Internal ID22646143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43977213..43977976hg38UCSC Ensembl
chr1:44442885..44443648hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38764
hg19764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17381757
Samples
Known GenesATP6V0B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5871206
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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