A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3705647



Internal ID18657242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248568732..248632551hg38UCSC Ensembl
Innerchr1:248732033..248795852hg19UCSC Ensembl
Innerchr1:246798656..246862475hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3863820
hg1963820
hg1863820
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009414
Supporting Variants
Samples
Known GenesOR2T10, OR2T11, OR2T34
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3705647
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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