A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17999494



Internal ID20566456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13895540..13896397hg38UCSC Ensembl
chr12:14048474..14049331hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38858
hg19858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6464364
Supporting Variants
Samples
Known GenesGRIN2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17999494
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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