A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6336709



Internal ID20994262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208485794..208488805hg38UCSC Ensembl
chr2:209350519..209353530hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg383012
hg193012
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18082666
Samples
Known GenesPTH2R
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6336709
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