A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200992



Internal ID20768032
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 StatusS
Merged Variantsnsv6328487
Supporting Variants
Samples
Known GenesARHGAP30
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200992
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00359


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