A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203071



Internal ID20770111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39034987..39477333hg38UCSC Ensembl
chr1:39500659..39943005hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38442347
hg19442347
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6334605
Supporting Variants
Samples
Known GenesKIAA0754, MACF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203071
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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