A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008044



Internal ID18750575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248599615..248664923hg38UCSC Ensembl
Innerchr1:248762916..248828224hg19UCSC Ensembl
Innerchr1:246829539..246894847hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3865309
hg1965309
hg1865309
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv637n100
Supporting Variantsnssv3494811
Samples
Known GenesOR2T11, OR2T27, OR2T35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008044
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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