A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17089971



Internal ID21454384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76506918..76508028hg38UCSC Ensembl
chr12:76900698..76901808hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg381111
hg191111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5599769
Supporting Variants
SamplesHG02011
Known GenesOSBPL8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17089971
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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