A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999950



Internal ID18812800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248088012..248271507hg38UCSC Ensembl
Innerchr1:248251314..248434809hg19UCSC Ensembl
Innerchr1:246317937..246501432hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38183496
hg19183496
hg18183496
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv611n100
Supporting Variantsnssv3484139, nssv3489175
Samples
Known GenesOR2L13, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999950
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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