A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1846n106



Internal ID22795674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3199668..3199738hg38UCSC Ensembl
chr2:3203439..3203509hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1110732, nsv1115995
SamplesKWS2, KWS1
Known GenesTSSC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1846n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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