A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17423258



Internal ID22481128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:96805012..96805012hg38UCSC Ensembl
chr5:96140715..96140715hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5958985
Supporting Variants
Samples
Known GenesERAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17423258
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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