A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6506761



Internal ID20880046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4453542..4467721hg38UCSC Ensembl
chr16:4503543..4517722hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3814180
hg1914180
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187685
Samples
Known GenesDNAJA3, NMRAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6506761
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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