A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2683n106



Internal ID20162040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195642373..196006834hg38UCSC Ensembl
chr3:195369244..195733705hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38364462
hg19364462
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1141891, nsv1110865
SamplesKWS2, KWS1
Known GenesMIR570, MIR6829, MUC20, MUC4, SDHAP1, SDHAP2, TNK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2683n106
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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