A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403466



Internal ID22321079
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205583
Supporting Variants
SamplesNA19240
Known GenesGNG12
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14403466
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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