A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4749480



Internal ID20525511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9065149..9065241hg38UCSC Ensembl
chr12:9217745..9217837hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16273428
Samples
Known GenesA2M-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4749480
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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