A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4749953



Internal ID20525988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108322229..108322600hg38UCSC Ensembl
chr12:108716006..108716377hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16275618
Samples
Known GenesCMKLR1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4749953
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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