A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6341715



Internal ID20999268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:221249301..222032200hg38UCSC Ensembl
chr2:222114021..222896919hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38782900
hg19782899
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18086255
Samples
Known GenesEPHA4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6341715
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