A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv47n100



Internal ID19010415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16544771..16643949hg38UCSC Ensembl
chr1:16871266..16970444hg19UCSC Ensembl
chr1:16743853..16843031hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3899179
hg1999179
hg1899179
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006638, nsv1005136, nsv1006099, nsv1010358, nsv999682, nsv1006436, nsv1010074
Samples
Known GenesCROCCP2, MIR3675, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv47n100
Frequency
Sample Size29084
Observed Gain28
Observed Loss40
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer