A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18060505



Internal ID20627545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42856829..42859446hg38UCSC Ensembl
chr1:43322500..43325117hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg382618
hg192618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328268
Supporting Variants
Samples
Known GenesLOC339539
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18060505
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00028


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