A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054516



Internal ID18797047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46536457..46878295hg38UCSC Ensembl
Innerchr10:46674168..47013160hg19UCSC Ensembl
Innerchr10:46094174..46433166hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38341839
hg19338993
hg18338993
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv739n100
Supporting Variantsnssv3522207
Samples
Known GenesBMS1P1, BMS1P5, FAM35BP, FRMPD2P1, GLUD1P7, 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)nsv1054516
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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