A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18035478



Internal ID20602518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41225801..41239200hg38UCSC Ensembl
chr17:39382053..39395452hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3813400
hg1913400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6511876
Supporting Variants
Samples
Known GenesKRTAP9-2, KRTAP9-3, KRTAP9-8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18035478
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.04881


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