A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065489



Internal ID18808020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:2631416..3948349hg38UCSC Ensembl
Innerchr17:2534710..3851643hg19UCSC Ensembl
Innerchr17:2481460..3798392hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381316934
hg191316934
hg181316933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560083
Samples
Known GenesASPA, ATP2A3, C17orf85, CAMKK1, CLUH, CTNS, EMC6, GSG2, ITGAE, MIR1253, MIR6776, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR3A1, OR3A2, OR3A3, OR3A4P, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, RAP1GAP2, SHPK, SPATA22, TAX1BP3, TRPV1, TRPV3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065489
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