A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5927935



Internal ID22703168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48635853..48636900hg38UCSC Ensembl
chr12:49029636..49030683hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381048
hg191048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv409n209
Supporting Variantsnssv17361891
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5927935
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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