A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204795



Internal ID20771835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131099303..132437775hg38UCSC Ensembl
chr2:131856876..133195348hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381338473
hg191338473
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6341759
Supporting Variants
Samples
Known GenesANKRD30BL, C2orf27A, C2orf27B, CCDC74A, GPR39, LINC01087, LINC01120, LOC150776, LOC401010, LOC440910, MIR4784, MIR663B, MZT2A, PLEKHB2, POTEE, POTEKP, RNU6-81P, TUBA3D, WTH3DI
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204795
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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