A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3486287



Internal ID19073928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143541845..143890311hg38UCSC Ensembl
Innerchr1:149036512..149384885hg19UCSC Ensembl
Innerchr1:147303136..147651509hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38348467
hg19348374
hg18348374
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003509
Supporting Variants
Samples
Known GenesFCGR1C, LOC101929780, LOC388692, NBPF23
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3486287
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer