A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050198



Internal ID18792729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46450514..46878295hg38UCSC Ensembl
Innerchr10:46674168..47099248hg19UCSC Ensembl
Innerchr10:46094174..46519254hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38427782
hg19425081
hg18425081
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv743n100
Supporting Variantsnssv3519490
Samples
Known GenesBMS1P1, BMS1P5, FAM35BP, FRMPD2P1, GLUD1P7, GPRIN2, LINC00842, LOC100996758, NPY4R, SYT15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050198
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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