A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946915



Internal ID22722414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56292270..56292775hg38UCSC Ensembl
chr12:56686054..56686559hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38506
hg19506
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17364413
Samples
Known GenesCS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946915
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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