A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943832



Internal ID22719287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75249100..75249229hg38UCSC Ensembl
chr17:73245181..73245310hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17370358
Samples
Known GenesGGA3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943832
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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