A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508213



Internal ID284909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56733460..56733526hg38UCSC Ensembl
chr12:57127244..57127310hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057691
Samples
Known GenesPRIM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508213
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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