A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000142



Internal ID18742673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247669176..248424513hg38UCSC Ensembl
Innerchr1:247832478..248587814hg19UCSC Ensembl
Innerchr1:245899101..246654437hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38755338
hg19755337
hg18755337
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv606n100
Supporting Variantsnssv3482979
Samples
Known GenesOR11L1, OR13G1, OR14A16, OR14C36, OR1C1, OR2AK2, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T12, OR2T33, OR2T4, OR2T6, OR2T8, OR2W3, OR6F1, TRIM58
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000142
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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