A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17369119



Internal ID22594788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76711823..76720278hg38UCSC Ensembl
chr12:77105603..77114058hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg388456
hg198456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5946736
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17369119
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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