A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318197



Internal ID20851288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243492463..243492742hg38UCSC Ensembl
chr1:243655765..243656044hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18059562
Samples
Known GenesAKT3, SDCCAG8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318197
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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