A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5868340



Internal ID22643275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230187852..230187944hg38UCSC Ensembl
chr1:230323598..230323690hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353187
Samples
Known GenesGALNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5868340
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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