A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17468926



Internal ID22526816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42560646..42562995hg38UCSC Ensembl
chr12:42954448..42956797hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382350
hg192350
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5862241
Supporting Variants
Samples
Known GenesPRICKLE1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17468926
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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