A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554746



Internal ID327923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:63993599..64000452hg38UCSC Ensembl
chr12:64387379..64394232hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg386854
hg196854
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688596
Samples
Known GenesSRGAP1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554746
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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