A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007046



Internal ID18749577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100631400..100727760hg38UCSC Ensembl
Innerchr3:100350244..100446604hg19UCSC Ensembl
Innerchr3:101832934..101929294hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg3896361
hg1996361
hg1896361
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4830n100
Supporting Variantsnssv3604366
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)nsv1007046
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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