A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941393



Internal ID22716817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53535265..53535952hg38UCSC Ensembl
chr12:53929049..53929736hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38688
hg19688
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17360457
Samples
Known GenesATF7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941393
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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