A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011047



Internal ID19100264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143754786..143942259hg38UCSC Ensembl
Innerchr1:149249435..149436830hg19UCSC Ensembl
Innerchr1:147516059..147703454hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38187474
hg19187396
hg18187396
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv413n100
Supporting Variantsnssv3500854, nssv3488146, nssv3495991, nssv3494277, nssv3492312, nssv3705027, nssv3494441, nssv3705026, nssv3487542, nssv3493695, nssv3492851, nssv3705028, nssv3484323, nssv3485484
Samples
Known GenesFCGR1C, LOC388692
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011047
Frequency
Sample Size11257
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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