A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16924383



Internal ID17024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:204670267..204671422hg38UCSC Ensembl
chr2:205534990..205536145hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg381156
hg191156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5438809
Supporting Variants
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16924383
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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