A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6603292



Internal ID20976363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75414001..75417400hg38UCSC Ensembl
chr7:75043279..75046683hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg383400
hg193405
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18223783
Samples
Known GenesNSUN5P1, POM121C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6603292
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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