A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15194165



Internal ID21333059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125307743..125307743hg38UCSC Ensembl
chr12:125792289..125792289hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3952937
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15194165
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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