A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008949



Internal ID18751480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100623346..100723634hg38UCSC Ensembl
Innerchr3:100342190..100442478hg19UCSC Ensembl
Innerchr3:101824880..101925168hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38100289
hg19100289
hg18100289
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4830n100
Supporting Variantsnssv3604353, nssv3604351, nssv3604352
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)nsv1008949
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer