A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5936951



Internal ID22712312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48724765..48724844hg38UCSC Ensembl
chr12:49118548..49118627hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350160
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5936951
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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