A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6539596



Internal ID20912892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202526974..202527438hg38UCSC Ensembl
chr2:203391697..203392161hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38465
hg19465
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18257742
Samples
Known GenesBMPR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6539596
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