A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15191869



Internal ID21330734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25590144..25590144hg38UCSC Ensembl
chr12:25743078..25743078hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38997
hg19997
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3950460
Supporting Variants
SamplesHG002
Known GenesIFLTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15191869
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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