A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008353



Internal ID18750884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100631400..100722872hg38UCSC Ensembl
Innerchr3:100350244..100441716hg19UCSC Ensembl
Innerchr3:101832934..101924406hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg3891473
hg1991473
hg1891473
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4830n100
Supporting Variantsnssv3604362, nssv3735239
Samples
Known GenesGPR128, TFG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008353
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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