A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18000177



Internal ID20567217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3750220..3767522hg38UCSC Ensembl
chr12:3859386..3876688hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3817303
hg1917303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6460887
Supporting Variants
Samples
Known GenesEFCAB4B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18000177
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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