A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6336090



Internal ID20993643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:124537937..124541103hg38UCSC Ensembl
chr2:125295514..125298680hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg383167
hg193167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18076930
Samples
Known GenesCNTNAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6336090
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