A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17366688



Internal ID22592357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101478888..101478938hg38UCSC Ensembl
chr12:101872666..101872716hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5943606
Supporting Variants
Samples
Known GenesSPIC
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17366688
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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