A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556253



Internal ID329394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44958430..45140969hg38UCSC Ensembl
chr17:43035798..43218336hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38182540
hg19182539
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713328
Samples
Known GenesACBD4, C1QL1, DCAKD, MIR6784, NMT1, PLCD3
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556253
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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