A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15185711



Internal ID21324524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45914205..45914205hg38UCSC Ensembl
chr17:43991571..43991571hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3927186
Supporting Variants
SamplesHG002
Known GenesMAPT
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15185711
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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