A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18051125



Internal ID20618165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108823301..108829300hg38UCSC Ensembl
chr1:109365923..109371922hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg386000
hg196000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6319758
Supporting Variants
Samples
Known GenesAKNAD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18051125
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.01943


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