A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6337963



Internal ID20995516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178435701..178499200hg38UCSC Ensembl
chr2:179300428..179363927hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3863500
hg1963500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208056
Samples
Known GenesDFNB59, FKBP7, MIR548N, PLEKHA3, PRKRA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6337963
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