A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3065n100



Internal ID20154681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88711587..88927172hg38UCSC Ensembl
chr16:88777995..88993580hg19UCSC Ensembl
chr16:87305496..87521081hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38215586
hg19215586
hg18215586
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1055581, nsv1059030, nsv1065632
Samples
Known GenesAPRT, CBFA2T3, CDT1, CTU2, GALNS, LOC100289580, MIR4722, PABPN1L, PIEZO1, TRAPPC2L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3065n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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