A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048056



Internal ID19137275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46247355..47117543hg19UCSC Ensembl
Innerchr10:45567361..46537549hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg19870189
hg18970189
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv731n100
Supporting Variantsnssv3510519
Samples
Known GenesAGAP4, BMS1P1, BMS1P5, FAM21C, FAM35BP, FRMPD2P1, GLUD1P7, GPRIN2, LINC00842, LOC100996758, NPY4R, 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)nsv1048056
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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