A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18088919



Internal ID20655959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70081410..70082625hg38UCSC Ensembl
chr2:70308542..70309757hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381216
hg191216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6348152
Supporting Variants
Samples
Known GenesPCBP1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18088919
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00084


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