A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17362284



Internal ID22587953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56524659..56524964hg38UCSC Ensembl
chr12:56918443..56918748hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936459
Supporting Variants
Samples
Known GenesRBMS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17362284
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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