A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5909786



Internal ID22684996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18195737..18203356hg38UCSC Ensembl
chr12:18348671..18356290hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg387620
hg197620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350536
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5909786
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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