A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv45n100



Internal ID19010413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16518425..16788205hg38UCSC Ensembl
chr1:16844920..17114700hg19UCSC Ensembl
chr1:16717507..16987287hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38269781
hg19269781
hg18269781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1002636, nsv999128, nsv997565, nsv1002291, nsv1013347, nsv1003068, nsv1005752, nsv1007961, nsv998414, nsv999889, nsv1001395, nsv1005144, nsv997605
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, 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)dgv45n100
Frequency
Sample Size29084
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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