A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050486



Internal ID18793017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46543248..46878295hg38UCSC Ensembl
Innerchr10:46674168..47006369hg19UCSC Ensembl
Innerchr10:46094174..46426375hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38335048
hg19332202
hg18332202
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv742n100
Supporting Variantsnssv3520947
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)nsv1050486
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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