A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17999201



Internal ID20566241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126929322..127229788hg38UCSC Ensembl
chr12:127413868..127714333hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38300467
hg19300466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6480118
Supporting Variants
Samples
Known GenesLOC101927592
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17999201
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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