A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6320521



Internal ID20853620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196746801..196844600hg38UCSC Ensembl
chr1:196715931..196813730hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3897800
hg1997800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv490n223
Supporting Variantsnssv18056605
Samples
Known GenesCFH, CFHR1, CFHR3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6320521
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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