A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17461867



Internal ID22519753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3686802..3703114hg38UCSC Ensembl
chr12:3795968..3812280hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3816313
hg1916313
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5851750
Supporting Variants
Samples
Known GenesEFCAB4B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17461867
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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