A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917035



Internal ID12097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101358748..101359074hg38UCSC Ensembl
chr2:101975210..101975536hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448513
Supporting Variants
Samples
Known GenesCREG2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917035
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.654435


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