A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv604n100



Internal ID20152220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247654777..248129856hg38UCSC Ensembl
chr1:247818079..248293158hg19UCSC Ensembl
chr1:245884702..246359781hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38475080
hg19475080
hg18475080
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007517, nsv1014174, nsv1014813, nsv1013346, nsv1010461, nsv1001985, nsv1005942, nsv999033
Samples
Known GenesOR11L1, OR13G1, OR14A16, OR1C1, OR2AK2, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, 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)dgv604n100
Frequency
Sample Size29084
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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