A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875445



Internal ID22650402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:72679239..72687547hg38UCSC Ensembl
chr2:72906368..72914676hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg388309
hg198309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17397904
Samples
Known GenesEXOC6B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875445
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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