A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1114n54



Internal ID20134538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46216824..46281263hg38UCSC Ensembl
chr10:47588060..47652499hg19UCSC Ensembl
chr10:47058066..47122505hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3864440
hg1964440
hg1864440
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv550784, nsv550771, nsv550783, nsv550776, nsv550770
SamplesHGDP00682, NINDS_233, HGDP00547, 1780854449_A, NINDS_51
Known GenesANTXRLP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1114n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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