A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3488752



Internal ID18729707
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 StatusS
Merged Variantsnsv1006491
Supporting Variants
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)nssv3488752
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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