A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748197



Internal ID20524222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114705138..114705266hg38UCSC Ensembl
chr12:115142943..115143071hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16293611
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4748197
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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