A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046798



Internal ID18789329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46526513..46878295hg38UCSC Ensembl
Innerchr10:46674168..47030888hg19UCSC Ensembl
Innerchr10:46094174..46450894hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38351783
hg19356721
hg18356721
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv740n100
Supporting Variantsnssv3505871, nssv3517809
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)nsv1046798
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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