A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14372468



Internal ID22229859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67709904..67710016hg38UCSC Ensembl
chr1:68175587..68175699hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204855
Supporting Variants
SamplesHG00733
Known GenesGNG12
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14372468
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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