A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000673



Internal ID18743204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54630765..54818045hg38UCSC Ensembl
Innerchr1:55096438..55283718hg19UCSC Ensembl
Innerchr1:54869026..55056306hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38187281
hg19187281
hg18187281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3480763
Samples
Known GenesACOT11, C1orf177, MROH7, MROH7-TTC4, PARS2, TTC22, TTC4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000673
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