A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545707



Internal ID22414714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63285010..63285010hg38UCSC Ensembl
chr8:64197568..64197568hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14402801
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3545707
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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