A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17360457



Internal ID22586126
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 StatusS
Merged Variantsnsv5941393
Supporting Variants
Samples
Known GenesATF7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17360457
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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