A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18034579



Internal ID20601619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1599501..1604100hg38UCSC Ensembl
chr17:1502795..1507394hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg384600
hg194600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6499766
Supporting Variants
Samples
Known GenesSLC43A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18034579
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00233


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