A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923385



Internal ID16356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196403861..196408816hg38UCSC Ensembl
chr2:197268585..197273540hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg384956
hg194956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446884
Supporting Variants
Samples
Known GenesHECW2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923385
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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