A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5929279



Internal ID22704530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93938749..93938824hg38UCSC Ensembl
chr12:94332525..94332600hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353142
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5929279
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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