A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6328487



Internal ID20861635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161061412..161065235hg38UCSC Ensembl
chr1:161031202..161035025hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg383824
hg193824
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200992
Samples
Known GenesARHGAP30
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6328487
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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