A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002682



Internal ID18745214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248174410..248472420hg38UCSC Ensembl
Innerchr1:248337712..248635721hg19UCSC Ensembl
Innerchr1:246404335..246702344hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38298011
hg19298010
hg18298010
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv613n100
Supporting Variantsnssv3484712
Samples
Known GenesOR14C36, OR2M2, OR2M3, OR2M4, OR2M7, OR2T1, OR2T12, OR2T2, OR2T33, OR2T4, OR2T6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002682
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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