A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909474



Internal ID7099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11145117..11148889hg38UCSC Ensembl
chr2:11285243..11289015hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg383773
hg193773
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560849
Supporting Variants
Samples
Known GenesC2orf50
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909474
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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