A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010894



Internal ID18753427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143541845..144572337hg38UCSC Ensembl
Innerchr1:149036512..149521828hg19UCSC Ensembl
Innerchr1:147303136..147788452hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381030493
hg19485317
hg18485317
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv380n100
Supporting Variantsnssv3704046, nssv3492730, nssv3502330, nssv3499306, nssv3487779, nssv3483303, nssv3497745, nssv3492895, nssv3499643, nssv3495590, nssv3491002, nssv3501281, nssv3497284, nssv3497158, nssv3483749, nssv3484243, nssv3496971, nssv3494867, nssv3502362, nssv3492196, nssv3484270
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)nsv1010894
Frequency
Sample Size29084
Observed Gain9
Observed Loss12
Observed Complex0
Frequencyn/a


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