A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6602026



Internal ID20975097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7179201..7186200hg38UCSC Ensembl
chr7:7218832..7225831hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg387000
hg197000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18220710
Samples
Known GenesC1GALT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6602026
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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