A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv48n100



Internal ID22786135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16544771..16679471hg38UCSC Ensembl
chr1:16871266..17005966hg19UCSC Ensembl
chr1:16743853..16878553hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38134701
hg19134701
hg18134701
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003878, nsv1010727, nsv1001617, nsv998751
Samples
Known GenesCROCCP2, LOC729574, MIR3675, MST1P2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv48n100
Frequency
Sample Size11257
Observed Gain70
Observed Loss15
Observed Complex0
Frequencyn/a


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