A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6416963



Internal ID21074516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56992901..56994900hg38UCSC Ensembl
chr8:57905460..57907459hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18224573
Samples
Known GenesIMPAD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6416963
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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