A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973267



Internal ID22748202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82157630..82194004hg38UCSC Ensembl
chr17:80115506..80151880hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3836375
hg1936375
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372321
Samples
Known GenesCCDC57
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973267
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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