A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044378



Internal ID19133597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46215431..47069678hg19UCSC Ensembl
Innerchr10:45535437..46489684hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg19854248
hg18954248
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv731n100
Supporting Variantsnssv3516071
Samples
Known GenesAGAP4, BMS1P1, BMS1P5, FAM21C, 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)nsv1044378
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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