A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15186036



Internal ID21324851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3649512..3649512hg38UCSC Ensembl
chr19:3649510..3649510hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3936655
Supporting Variants
SamplesHG002
Known GenesPIP5K1C
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15186036
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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