A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555463



Internal ID328620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120561097..121398447hg38UCSC Ensembl
chr12:120998900..121836250hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38837351
hg19837351
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684913
Samples
Known GenesACADS, ANAPC5, C12orf43, CABP1, CAMKK2, HNF1A, HNF1A-AS1, MIR4700, MLEC, OASL, P2RX4, P2RX7, POP5, RNF10, SPPL3, UNC119B
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555463
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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