A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317998



Internal ID20851089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58463715..59072395hg38UCSC Ensembl
chr1:58929387..59538067hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38608681
hg19608681
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202089
Samples
Known GenesJUN, LINC01135, MYSM1, OMA1, TACSTD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317998
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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