A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17461140



Internal ID22519023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132086272..132088809hg38UCSC Ensembl
chr12:132570817..132573354hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382538
hg192538
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5858919
Supporting Variants
Samples
Known GenesEP400NL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17461140
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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