A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558024



Internal ID331100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123705877..123705949hg38UCSC Ensembl
chr12:124190424..124190496hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690836
Samples
Known GenesTCTN2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558024
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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