A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530506



Internal ID22399884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55003044..55003044hg38UCSC Ensembl
chr1:55468717..55468717hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413142
SamplesHG00514
Known GenesBSND
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)nsv3530506
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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