A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6463019



Internal ID21120572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:71093452..71094136hg38UCSC Ensembl
chr11:70804498..70805182hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38685
hg19685
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182954
Samples
Known GenesSHANK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6463019
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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