A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317799



Internal ID20850888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167297467..167301822hg38UCSC Ensembl
chr1:167266704..167271059hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg384356
hg194356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18053546
Samples
Known GenesPOU2F1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317799
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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