A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6336640



Internal ID20994193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178465054..178481667hg38UCSC Ensembl
chr2:179329781..179346394hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3816614
hg1916614
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208058
Samples
Known GenesFKBP7, MIR548N, PLEKHA3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6336640
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer