A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18056607



Internal ID20623647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196748301..196844600hg38UCSC Ensembl
chr1:196717431..196813730hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3896300
hg1996300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330824
Supporting Variants
Samples
Known GenesCFHR1, CFHR3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18056607
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.20824


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