A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6323952



Internal ID20857075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5900810..5913906hg38UCSC Ensembl
chr1:5960870..5973966hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3813097
hg1913097
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202093
Samples
Known GenesNPHP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6323952
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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