A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14431941



Internal ID22174714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114225225..114225364hg38UCSC Ensembl
chr1:114767847..114767986hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204929
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14431941
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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