A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3536771



Internal ID22405993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51804555..51804555hg38UCSC Ensembl
chr1:52270227..52270227hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413632, nssv14441243, nssv14384140
SamplesNA19240, HG00733, HG00514
Known GenesNRD1
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)nsv3536771
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer