A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv50n100



Internal ID19010418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16544771..16721972hg38UCSC Ensembl
chr1:16871266..17048467hg19UCSC Ensembl
chr1:16743853..16921054hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38177202
hg19177202
hg18177202
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004053, nsv998027, nsv1014352, nsv1009886, nsv1003580, nsv1011759, nsv1005327, nsv1010976, nsv1009214, nsv998882, nsv1006444, nsv1006615, nsv1007868, nsv1007096, nsv1004005, nsv1010594, nsv998387, nsv1009923
Samples
Known GenesCROCCP2, ESPNP, 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)dgv50n100
Frequency
Sample Size29084
Observed Gain52
Observed Loss0
Observed Complex0
Frequencyn/a


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