A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv99n145



Internal ID22813115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196758680..196851756hg38UCSC Ensembl
chr1:196727810..196820886hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3893077
hg1993077
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3110173, nsv3117791, nsv3113577, nsv3116799, nsv3115902, nsv3113606
Samplessample306, sample90, sample271, sample190, sample129, sample17, sample44, sample235, sample137, sample112, sample73, sample155
Known GenesCFHR1, CFHR3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv99n145
Frequency
Sample Size467
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer