A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17451659



Internal ID22509531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42522079..42524878hg38UCSC Ensembl
chr12:42915881..42918680hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382800
hg192800
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5856027
Supporting Variants
Samples
Known GenesPRICKLE1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17451659
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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