A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271468



Internal ID22152114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:15044001..15058484hg38UCSC Ensembl
Outerchr3:15085508..15099991hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg3814484
hg1914484
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210359
Supporting Variants
SamplesHG00514
Known GenesMRPS25, NR2C2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271468
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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