A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6619772



Internal ID20992843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130145089..130152506hg38UCSC Ensembl
chr6:130466234..130473651hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg387418
hg197418
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18215547
Samples
Known GenesSAMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6619772
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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