A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17457943



Internal ID22515824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3832442..3839851hg38UCSC Ensembl
chr12:3941608..3949017hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg387410
hg197410
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5849312
Supporting Variants
Samples
Known GenesPARP11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17457943
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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