A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17402395



Internal ID22460265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166200071..166214621hg38UCSC Ensembl
chr2:167056581..167071131hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3814551
hg1914551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5895982
Supporting Variants
Samples
Known GenesSCN9A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17402395
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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