A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3533897



Internal ID22403194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175971094..175971094hg38UCSC Ensembl
chr1:175940230..175940230hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38386
hg19386
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14440717
SamplesHG00733
Known GenesRFWD2
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)nsv3533897
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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