A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974958



Internal ID22749893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:17189530..17712557hg38UCSC Ensembl
chr9:17189528..17712555hg19UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg38523028
hg19523028
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17445027
Samples
Known GenesCNTLN, SH3GL2
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974958
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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