A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752271



Internal ID20528131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52408970..52408970hg38UCSC Ensembl
chr12:52802754..52802754hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38567
hg19567
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16271332
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752271
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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