A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999299



Internal ID19158835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248589903..248650779hg38UCSC Ensembl
Innerchr1:248753204..248814080hg19UCSC Ensembl
Innerchr1:246819827..246880703hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3860877
hg1960877
hg1860877
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv630n100
Supporting Variantsnssv3488037, nssv3491733, nssv3498422, nssv3502197
Samples
Known GenesOR2T10, OR2T11, 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)nsv999299
Frequency
Sample Size11257
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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