A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17451845



Internal ID22509717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132769319..132771518hg38UCSC Ensembl
chr12:133345905..133348104hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382200
hg192200
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5860353
Supporting Variants
Samples
Known GenesGOLGA3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17451845
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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