A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6503703



Internal ID20876959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53127701..53130300hg38UCSC Ensembl
chr16:53161613..53164212hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18193711
Samples
Known GenesCHD9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6503703
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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