A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546700



Internal ID320617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8656638..8656648hg38UCSC Ensembl
chr12:8809234..8809244hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055738
Samples
Known GenesMFAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546700
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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