A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14404598



Internal ID22328228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:39893943..39894119hg38UCSC Ensembl
chr15:40186144..40186320hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3272208
Supporting Variants
SamplesNA19240
Known GenesGPR176
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14404598
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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