A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557468



Internal ID330565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:132932988..133106246hg38UCSC Ensembl
chr2:133690561..133863819hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38173259
hg19173259
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924183
Samples
Known GenesMIR7853, NCKAP5
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557468
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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