A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18036171



Internal ID20603211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50478601..50479000hg38UCSC Ensembl
chr17:48555962..48556361hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6526270
Supporting Variants
Samples
Known GenesRSAD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18036171
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.02565


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