A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5883900



Internal ID22658882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230103140..230108098hg38UCSC Ensembl
chr1:230238887..230243845hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg384959
hg194959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363894
Samples
Known GenesGALNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5883900
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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