A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17356540



Internal ID22582209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:82284920..82285935hg38UCSC Ensembl
chr12:82678699..82679714hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381016
hg191016
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5978426
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17356540
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