A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554227



Internal ID327423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95095800..95106062hg38UCSC Ensembl
chr12:95489576..95499838hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3810263
hg1910263
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684226
Samples
Known GenesFGD6
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554227
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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