A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv44n100



Internal ID20151660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16504313..16660344hg38UCSC Ensembl
chr1:16830808..16986839hg19UCSC Ensembl
chr1:16703395..16859426hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38156032
hg19156032
hg18156032
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999004, nsv1006306, nsv1012518, nsv1013085, nsv1008952
Samples
Known GenesCROCCP2, 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)dgv44n100
Frequency
Sample Size29084
Observed Gain18
Observed Loss5
Observed Complex0
Frequencyn/a


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