A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507264



Internal ID283993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8656214..8656827hg38UCSC Ensembl
chr12:8808810..8809423hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38614
hg19614
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055736
Samples
Known GenesMFAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507264
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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