A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6339577



Internal ID20997130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165391601..165392700hg38UCSC Ensembl
chr2:166248111..166249210hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18080650
Samples
Known GenesSCN2A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6339577
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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