A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17999088



Internal ID20566128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125120156..125126203hg38UCSC Ensembl
chr12:125604702..125610749hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg386048
hg196048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6493032
Supporting Variants
Samples
Known GenesAACS
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17999088
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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