A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509180



Internal ID285844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53535306..53535953hg38UCSC Ensembl
chr12:53929090..53929737hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38648
hg19648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058682
Samples
Known GenesATF7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509180
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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