A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513024



Internal ID289558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6683011..6683398hg38UCSC Ensembl
chr12:6792177..6792564hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054699
Samples
Known GenesZNF384
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513024
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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