A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14312404



Internal ID22136241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230221852..230222044hg38UCSC Ensembl
chr1:230357598..230357790hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201113
Supporting Variants
SamplesHG00513
Known GenesGALNT2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14312404
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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