A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011944



Internal ID19101162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161553345..161668711hg38UCSC Ensembl
Innerchr1:161523135..161638501hg19UCSC Ensembl
Innerchr1:159789759..159905125hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38115367
hg19115367
hg18115367
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv449n100
Supporting Variantsnssv3486336, nssv3501601, nssv3494178, nssv3489357, nssv3496928, nssv3490519, nssv3704789, nssv3487276, nssv3501966, nssv3490301, nssv3501293
Samples
Known GenesFCGR2B, FCGR2C, 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)nsv1011944
Frequency
Sample Size11257
Observed Gain10
Observed Loss1
Observed Complex0
Frequencyn/a


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