A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17361435



Internal ID22587104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196803322..196928069hg38UCSC Ensembl
chr1:196772452..196897199hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38124748
hg19124748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5875302
Supporting Variants
Samples
Known GenesCFHR1, CFHR4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17361435
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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