A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16919224



Internal ID13590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131208309..131740809hg38UCSC Ensembl
chr2:131965882..132498382hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38532501
hg19532501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437602
Supporting Variants
Samples
Known GenesC2orf27A, CCDC74A, LINC01087, LINC01120, LOC150776, LOC401010, LOC440910, MIR4784, MZT2A, POTEE, POTEKP, RNU6-81P, TUBA3D, WTH3DI
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16919224
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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