A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556297



Internal ID329437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:38904562..38981705hg38UCSC Ensembl
chr12:39298364..39375507hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3877144
hg1977144
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058334
Samples
Known GenesCPNE8
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556297
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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