A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17995607



Internal ID20562647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102864305..102864602hg38UCSC Ensembl
chr12:103258083..103258380hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6458873
Supporting Variants
Samples
Known GenesPAH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17995607
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00128


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