A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17387300



Internal ID22445170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10562336..10562336hg38UCSC Ensembl
chr16:10656193..10656193hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5974891
Supporting Variants
Samples
Known GenesEMP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17387300
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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