A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6350586



Internal ID21008139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203473243..203480505hg38UCSC Ensembl
chr2:204337966..204345228hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg387263
hg197263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18084383
Samples
Known GenesRAPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6350586
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