A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048527



Internal ID18791058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46543248..46631445hg38UCSC Ensembl
Innerchr10:46918172..47006369hg19UCSC Ensembl
Innerchr10:46338178..46426375hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3888198
hg1988198
hg1888198
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv748n100
Supporting Variantsnssv3516656, nssv3502847, nssv3506642
Samples
Known GenesFAM35BP, 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)nsv1048527
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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