A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv336n100



Internal ID19010704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148240733..148359038hg38UCSC Ensembl
chr1:147713004..147831171hg19UCSC Ensembl
chr1:146179628..146297795hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38118306
hg19118168
hg18118168
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999451, nsv1013285
Samples
Known GenesMIR5087, NBPF10, NBPF8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv336n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss4
Observed Complex0
Frequencyn/a


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