A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6324839



Internal ID20857968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50948401..50984800hg38UCSC Ensembl
chr1:51414073..51450472hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3836400
hg1936400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv189n223
Supporting Variantsnssv18201435
Samples
Known GenesCDKN2C, FAF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6324839
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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