A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201436



Internal ID20768476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50950601..50981400hg38UCSC Ensembl
chr1:51416273..51447072hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3830800
hg1930800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333723
Supporting Variants
Samples
Known GenesCDKN2C, FAF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201436
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00064


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