A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17467226



Internal ID22525117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81098283..81101427hg38UCSC Ensembl
chr12:81492062..81495206hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg383145
hg193145
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5848654
Supporting Variants
Samples
Known GenesACSS3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17467226
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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