A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17432488



Internal ID22490358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:18580245..18584356hg38UCSC Ensembl
chr9:18580243..18584354hg19UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg384112
hg194112
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5978589
Supporting Variants
Samples
Known GenesADAMTSL1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17432488
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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