A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6546992



Internal ID20920202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208215482..208905075hg38UCSC Ensembl
chr2:209080206..209769799hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38689594
hg19689594
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18258585
Samples
Known GenesIDH1, IDH1-AS1, PIKFYVE, PTH2R
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6546992
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer