A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17365571



Internal ID22591240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106808472..106826396hg38UCSC Ensembl
chr12:107202250..107220174hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3817925
hg1917925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5939421
Supporting Variants
Samples
Known GenesRIC8B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17365571
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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