A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998465



Internal ID18811315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247907795..248622933hg38UCSC Ensembl
Innerchr1:248071097..248786234hg19UCSC Ensembl
Innerchr1:246137720..246852857hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38715139
hg19715138
hg18715138
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv608n100
Supporting Variantsnssv3705578
Samples
Known GenesOR14C36, OR2AK2, OR2G6, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T12, OR2T2, OR2T29, OR2T3, OR2T33, OR2T34, OR2T4, OR2T5, OR2T6, OR2T8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998465
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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