A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17457443



Internal ID22515325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109185994..109188643hg38UCSC Ensembl
chr12:109623799..109626448hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg382650
hg192650
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5855006
Supporting Variants
Samples
Known GenesACACB
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17457443
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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