A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204929



Internal ID22353706
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 StatusM
Merged Variantsdgv386n152
Supporting Variantsnssv14431941
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)nsv3204929
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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