A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5938456



Internal ID22713836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81158222..81159507hg38UCSC Ensembl
chr12:81552001..81553286hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381286
hg191286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361920
Samples
Known GenesACSS3, MIR4699
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5938456
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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