A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17604414



Internal ID21796461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56618434..56618434hg38UCSC Ensembl
chr12:57012218..57012218hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6090076
Supporting Variants
Samples
Known GenesBAZ2A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17604414
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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