A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15185746



Internal ID21324560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67494185..67494185hg38UCSC Ensembl
chr17:65490301..65490301hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3952220
Supporting Variants
SamplesHG002
Known GenesPITPNC1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15185746
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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