A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346995



Internal ID21004548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227703724..227748772hg38UCSC Ensembl
chr2:228568440..228613488hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3845049
hg1945049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18087074
Samples
Known GenesSLC19A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346995
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