A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17359141



Internal ID22584810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230222031..230222031hg38UCSC Ensembl
chr1:230357777..230357777hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5950597
Supporting Variants
Samples
Known GenesGALNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17359141
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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