A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15185046



Internal ID21323749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:72685321..72685321hg38UCSC Ensembl
chr17:70681460..70681460hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3938888
Supporting Variants
SamplesHG002
Known GenesSLC39A11
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15185046
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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