A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16914039



Internal ID10117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70081434..70082607hg38UCSC Ensembl
chr2:70308566..70309739hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381174
hg191174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448070
Supporting Variants
Samples
Known GenesPCBP1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16914039
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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