A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931456



Internal ID22706740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76721555..76724451hg38UCSC Ensembl
chr12:77115335..77118231hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg382897
hg192897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17362486
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5931456
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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