A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549603



Internal ID15990326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247885685..248672148hg38UCSC Ensembl
Innerchr1:248048987..248835449hg19UCSC Ensembl
Innerchr1:246115610..246902072hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38786464
hg19786463
hg18786463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739680
Samples
Known GenesOR14C36, OR2AK2, OR2G6, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549603
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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