A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199237



Internal ID20766277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109174307..109179355hg38UCSC Ensembl
chr1:109716929..109721977hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg385049
hg195049
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6317733
Supporting Variants
Samples
Known GenesKIAA1324
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199237
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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