A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3535984



Internal ID22405221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9998483..9998483hg38UCSC Ensembl
chr2:10138611..10138611hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14448272, nssv14392938
SamplesNA19240, HG00733
Known GenesGRHL1
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)nsv3535984
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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