A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17392420



Internal ID22450290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208470402..208470663hg38UCSC Ensembl
chr2:209335127..209335388hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5906519
Supporting Variants
Samples
Known GenesPTH2R
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17392420
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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