A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495384



Internal ID272501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8652366..8654814hg38UCSC Ensembl
chr12:8804962..8807410hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382449
hg192449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055735
Samples
Known GenesMFAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495384
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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