A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557738



Internal ID330827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22299623..22299623hg38UCSC Ensembl
chr12:22452557..22452557hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381
hg191
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054057
Samples
Known GenesST8SIA1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557738
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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