A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971740



Internal ID22746675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6546656..6552673hg38UCSC Ensembl
chr8:6404177..6410194hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17445948
Samples
Known GenesANGPT2, MCPH1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971740
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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