A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3476789



Internal ID18720526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45755945..45890893hg38UCSC Ensembl
Innerchr1:46221617..46356565hg19UCSC Ensembl
Innerchr1:45994204..46129152hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38134949
hg19134949
hg18134949
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013628
Supporting Variants
Samples
Known GenesMAST2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3476789
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