A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17364774



Internal ID22590443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196818908..196942884hg38UCSC Ensembl
chr1:196788038..196912014hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38123977
hg19123977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5883539
Supporting Variants
Samples
Known GenesCFHR1, CFHR4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17364774
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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