A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18035512



Internal ID20602552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41798044..41802399hg38UCSC Ensembl
chr17:39954296..39958651hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg384356
hg194356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6507232
Supporting Variants
Samples
Known GenesLEPREL4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18035512
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00033


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