A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971298



Internal ID22746233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31979101..31989231hg38UCSC Ensembl
chr12:32132035..32142165hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3810131
hg1910131
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369076
Samples
Known GenesKIAA1551
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971298
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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