A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999946



Internal ID19159482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161527518..161668711hg38UCSC Ensembl
Innerchr1:161497308..161638501hg19UCSC Ensembl
Innerchr1:159763932..159905125hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38141194
hg19141194
hg18141194
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv449n100
Supporting Variantsnssv3498861, nssv3483551
Samples
Known GenesFCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999946
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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