A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6338184



Internal ID20995737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:49056946..49362195hg38UCSC Ensembl
chr2:49284085..49589334hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38305250
hg19305250
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209844
Samples
Known GenesFSHR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6338184
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