A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011362



Internal ID18753896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143541845..143927875hg38UCSC Ensembl
Innerchr1:149036512..149422447hg19UCSC Ensembl
Innerchr1:147303136..147689071hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38386031
hg19385936
hg18385936
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv380n100
Supporting Variantsnssv3491747, nssv3704007, nssv3704006, nssv3488348, nssv3487743, nssv3498436, nssv3704005, nssv3499049, nssv3485358, nssv3498477
Samples
Known GenesFCGR1C, LOC101929780, LOC388692, NBPF23
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011362
Frequency
Sample Size29084
Observed Gain2
Observed Loss8
Observed Complex0
Frequencyn/a


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