A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv16n106



Internal ID20159373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2649961..2702761hg38UCSC Ensembl
chr1:2581400..2634200hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3852801
hg1952801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1132276, nsv1124558
SamplesKWS2, KWS1
Known GenesTTC34
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv16n106
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