A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6327847



Internal ID20860990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:190468801..190473800hg38UCSC Ensembl
chr1:190437931..190442930hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18054896
Samples
Known GenesBRINP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6327847
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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