A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18088916



Internal ID20655956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70066277..70074327hg38UCSC Ensembl
chr2:70293409..70301459hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg388051
hg198051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6351304
Supporting Variants
Samples
Known GenesPCBP1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18088916
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00061


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