A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280809



Internal ID22379124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9998450..9998512hg38UCSC Ensembl
chr2:10138578..10138640hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14467170
SamplesHG00733
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)nsv3280809
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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