A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5916879



Internal ID22692098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:676159..1623296hg38UCSC Ensembl
chr12:785325..1732462hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38947138
hg19947138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365802
Samples
Known GenesERC1, FBXL14, LINC00942, RAD52, WNK1, WNT5B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5916879
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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