A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18060399



Internal ID20627439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31610919..31702511hg38UCSC Ensembl
chr1:32076520..32168112hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3891593
hg1991593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6324468
Supporting Variants
Samples
Known GenesCOL16A1, HCRTR1, PEF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18060399
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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