A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17454039



Internal ID22511914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3823352..3827819hg38UCSC Ensembl
chr12:3932518..3936985hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg384468
hg194468
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5858955
Supporting Variants
Samples
Known GenesPARP11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17454039
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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