A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545443



Internal ID22414452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:3085757..3085757hg38UCSC Ensembl
chr10:3127949..3127949hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14381084, nssv14415180, nssv14442327
SamplesNA19240, HG00733, HG00514
Known GenesPFKP
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)nsv3545443
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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