A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv749n100



Internal ID19011117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46526513..46631445hg38UCSC Ensembl
chr10:46918172..47055642hg19UCSC Ensembl
chr10:46338178..46475648hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38104933
hg19137471
hg18137471
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1041627, nsv1044136, nsv1047008
Samples
Known GenesFAM35BP, GPRIN2, SYT15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv749n100
Frequency
Sample Size29084
Observed Gain99
Observed Loss22
Observed Complex0
Frequencyn/a


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