A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014117



Internal ID18756650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100607329..100723634hg38UCSC Ensembl
Innerchr3:100326173..100442478hg19UCSC Ensembl
Innerchr3:101808863..101925168hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38116306
hg19116306
hg18116306
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4830n100
Supporting Variantsnssv3604236, nssv3604235
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)nsv1014117
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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