A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6326988



Internal ID20860125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:191602390..192170487hg38UCSC Ensembl
chr1:191571520..192139617hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38568098
hg19568098
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199818
Samples
Known GenesRGS18
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6326988
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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