A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14450124



Internal ID22245341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:150591003..150591003hg38UCSC Ensembl
chr2:151447517..151447517hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3542974
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14450124
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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