A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494253



Internal ID271404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56226367..56229011hg38UCSC Ensembl
chr12:56620151..56622795hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg382645
hg192645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057626
Samples
Known GenesNABP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494253
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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