A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5894271



Internal ID22669342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170971599..170971920hg38UCSC Ensembl
chr2:171828109..171828430hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402794
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5894271
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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