A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006491



Internal ID18749022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248561921..248622933hg38UCSC Ensembl
Innerchr1:248725222..248786234hg19UCSC Ensembl
Innerchr1:246791845..246852857hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3861013
hg1961013
hg1861013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv627n100
Supporting Variantsnssv3488752
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)nsv1006491
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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