A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3481691



Internal ID18723144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54741809..54798388hg38UCSC Ensembl
Innerchr1:55207482..55264061hg19UCSC Ensembl
Innerchr1:54980070..55036649hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3856580
hg1956580
hg1856580
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1005734
Supporting Variants
Samples
Known GenesMROH7-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)nssv3481691
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