A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6504054



Internal ID20877313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45132962..45253872hg38UCSC Ensembl
chr17:43210329..43331239hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38120911
hg19120911
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18193392
Samples
Known GenesACBD4, FMNL1, HEXIM1, HEXIM2, MAP3K14-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6504054
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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