A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3504555



Internal ID18802836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3270807..3303418hg38UCSC Ensembl
Innerchr12:3379973..3412584hg19UCSC Ensembl
Innerchr12:3250234..3282845hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3832612
hg1932612
hg1832612
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1038053
Supporting Variants
Samples
Known GenesTSPAN9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3504555
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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