A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5465523



Internal ID243385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177669324..179310000hg38UCSC Ensembl
chr5:177096325..178737001hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381640677
hg191640677
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976828
Samples
Known GenesAACSP1, ADAMTS2, CLK4, COL23A1, FAM153A, FAM153C, GMCL1P1, GRM6, HNRNPAB, LOC202181, LOC728554, N4BP3, NHP2, PHYKPL, PROP1, RMND5B, ZFP2, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5465523
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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