A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406544



Internal ID22464414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127466115..127468247hg38UCSC Ensembl
chr2:128223691..128225823hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg382133
hg192133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5890628
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406544
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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