A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944392



Internal ID22719856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88579735..88579793hg38UCSC Ensembl
chr12:88973512..88973570hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366159
Samples
Known GenesKITLG
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944392
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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