A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6325995



Internal ID20859129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2181779..2186826hg38UCSC Ensembl
chr1:2113218..2118265hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg385048
hg195048
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200592
Samples
Known GenesC1orf86, PRKCZ
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6325995
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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