A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1770n100



Internal ID22787857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:19230949..19955201hg38UCSC Ensembl
chr14:19801743..20423360hg19UCSC Ensembl
chr14:18871743..19493200hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38724253
hg19621618
hg18621458
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1052552, nsv1053031, nsv1043640, nsv1042836, nsv1037149
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1770n100
Frequency
Sample Size11257
Observed Gain15
Observed Loss6
Observed Complex0
Frequencyn/a


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