A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6552328



Internal ID20925455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127459347..127614079hg38UCSC Ensembl
chr2:128216923..128371654hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38154733
hg19154732
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18256774
Samples
Known GenesIWS1, MYO7B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6552328
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