A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6337331



Internal ID20994884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131338901..131537400hg38UCSC Ensembl
chr2:132096474..132294973hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38198500
hg19198500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4125n223
Supporting Variantsnssv18204807
Samples
Known GenesCCDC74A, LINC01120, LOC150776, LOC401010, MIR4784, MZT2A, RNU6-81P, TUBA3D, WTH3DI
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6337331
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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