A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940546



Internal ID22715956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81097871..81100952hg38UCSC Ensembl
chr12:81491650..81494731hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg383082
hg193082
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365273
Samples
Known GenesACSS3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940546
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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