A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201405



Internal ID20768445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48085601..48091600hg38UCSC Ensembl
chr1:48551273..48557272hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg386000
hg196000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6329420
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201405
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00043


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