A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18082665



Internal ID20649705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208470402..208470664hg38UCSC Ensembl
chr2:209335127..209335389hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6340093
Supporting Variants
Samples
Known GenesPTH2R
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18082665
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00077


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