A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549601



Internal ID15990324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247742373..248110253hg38UCSC Ensembl
Innerchr1:247905675..248273555hg19UCSC Ensembl
Innerchr1:245972298..246340178hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38367881
hg19367881
hg18367881
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739678
Samples
Known GenesOR11L1, OR14A16, OR1C1, OR2AK2, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2T8, OR2W3, TRIM58
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549601
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