A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999500



Internal ID18812350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:106707226..108333964hg38UCSC Ensembl
Innerchr2:107323682..108950420hg19UCSC Ensembl
Innerchr2:106690114..108316852hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg381626739
hg191626739
hg181626739
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4034n100
Supporting Variantsnssv3729172
Samples
Known GenesRGPD4, RGPD4-AS1, SLC5A7, ST6GAL2, SULT1C2, SULT1C2P1, SULT1C3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999500
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