A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6506272



Internal ID20879550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53103635..53107408hg38UCSC Ensembl
chr16:53137547..53141320hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg383774
hg193774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18030433
Samples
Known GenesCHD9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6506272
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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