A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6338130



Internal ID20995683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227349347..227406684hg38UCSC Ensembl
chr2:228214063..228271400hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3857338
hg1957338
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206133
Samples
Known GenesMFF, TM4SF20
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6338130
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