A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5938139



Internal ID22713517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57291065..57291186hg38UCSC Ensembl
chr12:57684848..57684969hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17367621
Samples
Known GenesR3HDM2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5938139
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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