A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940030



Internal ID22715433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71650420..71650472hg38UCSC Ensembl
chr12:72044200..72044252hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17367165
Samples
Known GenesZFC3H1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940030
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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