A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4743060



Internal ID20519046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6344787..6344895hg38UCSC Ensembl
chr12:6453953..6454061hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16270924
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4743060
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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