A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437602



Internal ID216187
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 StatusM
Merged Variants
Supporting Variantsnssv16919224
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)nsv5437602
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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