A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18060168



Internal ID20627208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247541148..247543159hg38UCSC Ensembl
chr1:247704450..247706461hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg382012
hg192012
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328303
Supporting Variants
Samples
Known GenesGCSAML
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18060168
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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