A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006632



Internal ID18749163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:209712857..209797010hg38UCSC Ensembl
Innerchr1:209886202..209970355hg19UCSC Ensembl
Innerchr1:207952825..208036978hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3884154
hg1984154
hg1884154
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3705507
Samples
Known GenesC1orf74, HSD11B1, IRF6, TRAF3IP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006632
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