A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011891



Internal ID18754426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143541845..143934622hg38UCSC Ensembl
Innerchr1:149036512..149429194hg19UCSC Ensembl
Innerchr1:147303136..147695818hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38392778
hg19392683
hg18392683
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv380n100
Supporting Variantsnssv3483981, nssv3499483, nssv3496546, nssv3490946, nssv3501658, nssv3704012, nssv3492163, nssv3499604, nssv3704008, nssv3497577, nssv3704010, nssv3492889, nssv3493027, nssv3489245, nssv3489585, nssv3484509, nssv3704009, nssv3499674, nssv3490081, nssv3491937, nssv3485709, nssv3501840, nssv3704011, nssv3500080
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)nsv1011891
Frequency
Sample Size29084
Observed Gain10
Observed Loss14
Observed Complex0
Frequencyn/a


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