A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973261



Internal ID22748196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10298894..10304511hg38UCSC Ensembl
chr2:10439020..10444637hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg385618
hg195618
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17408040
Samples
Known GenesHPCAL1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973261
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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