A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002044



Internal ID19091261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161543969..161652367hg38UCSC Ensembl
Innerchr1:161513759..161622157hg19UCSC Ensembl
Innerchr1:159780383..159888781hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38108399
hg19108399
hg18108399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv448n100
Supporting Variantsnssv3491163, nssv3490351
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)nsv1002044
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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