A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977795



Internal ID22752730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75286460..75296027hg38UCSC Ensembl
chr12:75680240..75689807hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg389568
hg199568
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351543
Samples
Known GenesCAPS2
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977795
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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