A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939383



Internal ID22714776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93803646..93808913hg38UCSC Ensembl
chr12:94197422..94202689hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg385268
hg195268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361579
Samples
Known GenesCRADD
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939383
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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