A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005604



Internal ID18748135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161553345..161660140hg38UCSC Ensembl
Innerchr1:161523135..161629930hg19UCSC Ensembl
Innerchr1:159789759..159896554hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38106796
hg19106796
hg18106796
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv450n100
Supporting Variantsnssv3500431, nssv3489099
Samples
Known GenesFCGR2C, 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)nsv1005604
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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