A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997443



Internal ID19156979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161527110..161647856hg38UCSC Ensembl
Innerchr1:161496900..161617646hg19UCSC Ensembl
Innerchr1:159763524..159884270hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38120747
hg19120747
hg18120747
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv448n100
Supporting Variantsnssv3484065
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)nsv997443
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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