A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18060684



Internal ID20627724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27780722..27783921hg38UCSC Ensembl
chr1:28107233..28110432hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg383200
hg193200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330857
Supporting Variants
Samples
Known GenesSTX12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18060684
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00051


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