A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14417666



Internal ID22153994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:55958936..55958936hg38UCSC Ensembl
chr15:56251134..56251134hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg386082
hg196082
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3546262
Supporting Variants
SamplesHG00514
Known GenesNEDD4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14417666
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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