A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5848218



Internal ID22623153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116714277..116717376hg38UCSC Ensembl
chr12:117152082..117155181hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17458555
Samples
Known GenesC12orf49
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5848218
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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