A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003048



Internal ID19092265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161533092..161649256hg38UCSC Ensembl
Innerchr1:161502882..161619046hg19UCSC Ensembl
Innerchr1:159769506..159885670hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38116165
hg19116165
hg18116165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv448n100
Supporting Variantsnssv3488032
Samples
Known GenesFCGR2C, 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)nsv1003048
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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