A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17468853



Internal ID22526743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:29746881..29752189hg38UCSC Ensembl
chr14:30216087..30221395hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg385309
hg195309
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5858216
Supporting Variants
Samples
Known GenesPRKD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17468853
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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