A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6324855



Internal ID20857984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196768426..196853068hg38UCSC Ensembl
chr1:196737556..196822198hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3884643
hg1984643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv490n223
Supporting Variantsnssv18056612
Samples
Known GenesCFHR1, CFHR3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6324855
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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