A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201431



Internal ID20768471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50819076..51038486hg38UCSC Ensembl
chr1:51284748..51504158hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38219411
hg19219411
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6315599
Supporting Variants
Samples
Known GenesCDKN2C, FAF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201431
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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