A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17427383



Internal ID22485253
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 StatusS
Merged Variantsnsv5898383
Supporting Variants
Samples
Known GenesEPHA6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17427383
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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