A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199308



Internal ID20766348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121430801..121604200hg38UCSC Ensembl
chr1:121172661..121345998hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38173400
hg19173338
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6322643
Supporting Variants
Samples
Known GenesEMBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199308
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00255


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