A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5850352



Internal ID22625287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3725833..3731974hg38UCSC Ensembl
chr12:3834999..3841140hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg386142
hg196142
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17456488
Samples
Known GenesEFCAB4B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5850352
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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