A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17995611



Internal ID20562651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102893267..102899866hg38UCSC Ensembl
chr12:103287045..103293644hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg386600
hg196600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6471753
Supporting Variants
Samples
Known GenesPAH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17995611
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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