A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193249



Internal ID20760289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:95505601..95506300hg38UCSC Ensembl
chr9:98267883..98268582hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6436439
Supporting Variants
Samples
Known GenesPTCH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193249
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.09177


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