A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046235



Internal ID18788766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46487142..47008602hg38UCSC Ensembl
Innerchr10:46543845..47062299hg19UCSC Ensembl
Innerchr10:45963851..46482305hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38521461
hg19518455
hg18518455
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv737n100
Supporting Variantsnssv3512744
Samples
Known GenesBMS1P1, BMS1P5, FAM35BP, FRMPD2P1, GLUD1P7, GPRIN2, PTPN20A, PTPN20B, SYT15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046235
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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