A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292772



Internal ID22315212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1053192..1053243hg38UCSC Ensembl
chr1:988572..988623hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200054
Supporting Variants
SamplesNA19240
Known GenesAGRN
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14292772
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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