A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6027138



Internal ID21936481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48724489..48724566hg38UCSC Ensembl
chr12:49118272..49118349hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17613319
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6027138
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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