A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941212



Internal ID22716633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75104466..75104636hg38UCSC Ensembl
chr12:75498246..75498416hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368604
Samples
Known GenesKCNC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941212
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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