A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930736



Internal ID22706008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122981307..122981375hg38UCSC Ensembl
chr12:123465854..123465922hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358803
Samples
Known GenesARL6IP4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930736
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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