A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004216



Internal ID18746747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:107924531..108493578hg38UCSC Ensembl
Innerchr2:108540987..109110034hg19UCSC Ensembl
Innerchr2:107907419..108476466hg18UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38569048
hg19569048
hg18569048
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4035n100
Supporting Variantsnssv3580118
Samples
Known GenesGCC2, SLC5A7, SULT1C2, SULT1C2P1, SULT1C3, SULT1C4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004216
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