A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14420491



Internal ID22158132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9998492..9998492hg38UCSC Ensembl
chr2:10138620..10138620hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3540345
Supporting Variants
SamplesHG00514
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)nssv14420491
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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