A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5898383



Internal ID22673497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:97716272..97716592hg38UCSC Ensembl
chr3:97435116..97435436hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17427383
Samples
Known GenesEPHA6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5898383
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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