A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008002



Internal ID19097221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248568732..248611786hg38UCSC Ensembl
Innerchr1:248732033..248775087hg19UCSC Ensembl
Innerchr1:246798656..246841710hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3843055
hg1943055
hg1843055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3494775
Samples
Known GenesOR2T10, OR2T34
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008002
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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