A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318400



Internal ID20851492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84165301..84166500hg38UCSC Ensembl
chr1:84630984..84632183hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18064411
Samples
Known GenesPRKACB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318400
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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