A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6326842



Internal ID20859979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196801920..196926788hg38UCSC Ensembl
chr1:196771050..196895918hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38124869
hg19124869
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv491n223
Supporting Variantsnssv18056616
Samples
Known GenesCFHR1, CFHR4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6326842
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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