A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5916179



Internal ID22691398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4857551..4857891hg38UCSC Ensembl
chr12:4966717..4967057hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17359887
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5916179
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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