A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997630



Internal ID20564670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15650602..15650978hg38UCSC Ensembl
chr12:15803536..15803912hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6456302
Supporting Variants
Samples
Known GenesEPS8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997630
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00705


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