A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875005



Internal ID22649959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247530326..247533584hg38UCSC Ensembl
chr1:247693628..247696886hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg383259
hg193259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350663
Samples
Known GenesGCSAML, GCSAML-AS1, OR2C3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875005
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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