A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005193



Internal ID19094410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195799700..195982791hg38UCSC Ensembl
Innerchr3:195526571..195709662hg19UCSC Ensembl
Innerchr3:197010968..197194059hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38183092
hg19183092
hg18183092
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3616984
Samples
Known GenesMIR6829, MUC4, SDHAP1, TNK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005193
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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