A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013521



Internal ID18756052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248432380..248534078hg38UCSC Ensembl
Innerchr1:248595681..248697379hg19UCSC Ensembl
Innerchr1:246662304..246764002hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38101699
hg19101699
hg18101699
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv615n100
Supporting Variantsnssv3494144
Samples
Known GenesOR2G6, OR2T2, OR2T3, OR2T5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013521
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