A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200342



Internal ID20767382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:104006997..104108319hg38UCSC Ensembl
chr1:104549619..104650941hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38101323
hg19101323
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6332705
Supporting Variants
Samples
Known GenesLOC100129138
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200342
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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