A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532873



Internal ID22402195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47184449..47184449hg38UCSC Ensembl
chr1:47650121..47650121hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38617
hg19617
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413616
SamplesHG00514
Known GenesPDZK1IP1
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)nsv3532873
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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