A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143715



Internal ID342916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81338000..81395000hg38UCSC Ensembl
chr12:81731779..81788779hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3857001
hg1957001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689504
Samples
Known GenesPPFIA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143715
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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