A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5937218



Internal ID22712582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96337072..96342344hg38UCSC Ensembl
chr12:96730850..96736122hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg385273
hg195273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17355038
Samples
Known GenesCDK17
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5937218
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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