A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17458221



Internal ID22516102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111422607..111426205hg38UCSC Ensembl
chr12:111860411..111864009hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg383599
hg193599
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5848593
Supporting Variants
Samples
Known GenesSH2B3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17458221
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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