A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200904



Internal ID20767944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149073701..149080600hg38UCSC Ensembl
chr1:148338300..148345187hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg386900
hg196888
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331805
Supporting Variants
Samples
Known GenesLOC101929780, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200904
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00089


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