A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008875



Internal ID18751406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:192709427..192878596hg38UCSC Ensembl
Innerchr3:192427216..192596385hg19UCSC Ensembl
Innerchr3:193909910..194079079hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38169170
hg19169170
hg18169170
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5010n100
Supporting Variantsnssv3611355
Samples
Known GenesFGF12, MB21D2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008875
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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