A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18063766



Internal ID20630806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78731937..79011882hg38UCSC Ensembl
chr1:79197622..79477567hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38279946
hg19279946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318021
Supporting Variants
Samples
Known GenesELTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18063766
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00036


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