A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv219n106



Internal ID19018328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168055321..168056519hg38UCSC Ensembl
chr1:168024559..168025757hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381199
hg191199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1111423, nsv1121074
SamplesKWS1, KWS2
Known GenesDCAF6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv219n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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