A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17469537



Internal ID22527427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24079317..24081316hg38UCSC Ensembl
chr12:24232251..24234250hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5856775
Supporting Variants
Samples
Known GenesSOX5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17469537
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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