A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048332



Internal ID18790863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46526513..46861290hg38UCSC Ensembl
Innerchr10:46691159..47055642hg19UCSC Ensembl
Innerchr10:46111165..46475648hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38334778
hg19364484
hg18364484
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv740n100
Supporting Variantsnssv3521031, nssv3707855, nssv3515222, nssv3502749, nssv3507411
Samples
Known GenesBMS1P1, BMS1P5, FAM35BP, 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)nsv1048332
Frequency
Sample Size29084
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer