A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6414947



Internal ID21072500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:50008507..50009218hg38UCSC Ensembl
chr6:49976220..49976931hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38712
hg19712
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18143478
Samples
Known GenesDEFB110
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6414947
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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