A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561640



Internal ID334611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179554688..180310132hg38UCSC Ensembl
chr5:178981689..179737132hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38755445
hg19755444
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16979728
Samples
Known GenesC5orf45, C5orf60, CANX, CBY3, GFPT2, HNRNPH1, LTC4S, MAML1, MAPK9, MGAT4B, MIR1229, MIR340, MIR6165, RASGEF1C, RNF130, RUFY1, SQSTM1, TBC1D9B
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5561640
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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