A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18002148



Internal ID20569188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51368543..51371181hg38UCSC Ensembl
chr12:51762327..51764965hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382639
hg192639
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6466457
Supporting Variants
Samples
Known GenesGALNT6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18002148
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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