A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18036902



Internal ID20603942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55085501..55086500hg38UCSC Ensembl
chr17:53162862..53163861hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6521139
Supporting Variants
Samples
Known GenesSTXBP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18036902
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00039


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