A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv622n100



Internal ID20152238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248520087..248670652hg38UCSC Ensembl
chr1:248683388..248833953hg19UCSC Ensembl
chr1:246750011..246900576hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38150566
hg19150566
hg18150566
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv997599, nsv1005996, nsv1014036, nsv1010498, nsv1013189, nsv1005274, nsv998881, nsv1007529, nsv1000935, nsv1001505, nsv1003041
Samples
Known GenesOR2G6, OR2T10, OR2T11, OR2T27, OR2T29, OR2T34, OR2T35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv622n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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