A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18060097



Internal ID20627137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39200570..39204145hg38UCSC Ensembl
chr1:39666242..39669817hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg383576
hg193576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6322228
Supporting Variants
Samples
Known GenesMACF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18060097
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00036


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