A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14417611



Internal ID22153913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:39894052..39894052hg38UCSC Ensembl
chr15:40186253..40186253hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3546462
Supporting Variants
SamplesHG00514
Known GenesGPR176
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14417611
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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