A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908998



Internal ID6791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5548750..5555269hg38UCSC Ensembl
chr2:5688882..5695401hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg386520
hg196520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5451318
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908998
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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