A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv248n100



Internal ID20151864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107385172..108286989hg38UCSC Ensembl
chr1:107927794..108829611hg19UCSC Ensembl
chr1:107729317..108631134hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38901818
hg19901818
hg18901818
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1014119, nsv1000549, nsv1004696, nsv1003023
Samples
Known GenesMIR7852, NBPF4, NTNG1, SLC25A24, VAV3, VAV3-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv248n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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