A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15184871



Internal ID21323669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17252362..17252362hg38UCSC Ensembl
chr17:17155676..17155676hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3954383
Supporting Variants
SamplesHG002
Known GenesCOPS3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15184871
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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