A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6339308



Internal ID20996861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32135000..32178631hg38UCSC Ensembl
chr2:32360069..32403700hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3843632
hg1943632
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208197
Samples
Known GenesSLC30A6, SPAST
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6339308
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