A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203592



Internal ID20770632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32013301..32014700hg38UCSC Ensembl
chr1:32478902..32480301hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6315780
Supporting Variants
Samples
Known GenesKHDRBS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203592
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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