A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16272287



Internal ID20481505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:79001168..79001219hg38UCSC Ensembl
chr1:79466853..79466904hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4737023
Supporting Variants
Samples
Known GenesELTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16272287
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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