A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17467945



Internal ID22525834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102164522..102169471hg38UCSC Ensembl
chr12:102558300..102563249hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg384950
hg194950
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5860466
Supporting Variants
Samples
Known GenesPARPBP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17467945
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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