A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18038358



Internal ID20605398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73255489..73260682hg38UCSC Ensembl
chr17:71251628..71256821hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg385194
hg195194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6529454
Supporting Variants
Samples
Known GenesCPSF4L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18038358
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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