A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748449



Internal ID20524474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112572424..112572509hg38UCSC Ensembl
chr12:113010228..113010313hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16266135
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4748449
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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