A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046988



Internal ID18789519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46526513..46606240hg38UCSC Ensembl
Innerchr10:46943377..47030888hg19UCSC Ensembl
Innerchr10:46363383..46450894hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3879728
hg1987512
hg1887512
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv760n100
Supporting Variantsnssv3709021
Samples
Known GenesGPRIN2, SYT15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046988
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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