A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17469159



Internal ID22527050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119037708..119044344hg38UCSC Ensembl
chr12:119475513..119482149hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg386637
hg196637
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5862426
Supporting Variants
Samples
Known GenesSRRM4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17469159
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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