A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001373



Internal ID18743904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143541845..143942259hg38UCSC Ensembl
Innerchr1:149036512..149436830hg19UCSC Ensembl
Innerchr1:147303136..147703454hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38400415
hg19400319
hg18400319
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv380n100
Supporting Variantsnssv3485136, nssv3497713, nssv3490685, nssv3494323, nssv3488429, nssv3704031, nssv3502188, nssv3483190, nssv3496608, nssv3502139, nssv3501697, nssv3485061, nssv3492007, nssv3495953, nssv3704025, nssv3497652, nssv3492046, nssv3489057, nssv3485321, nssv3488725, nssv3485118, nssv3502649, nssv3498775, nssv3489980, nssv3704022, nssv3495014, nssv3501924, nssv3485833, nssv3496388, nssv3704027, nssv3482912, nssv3498906, nssv3499224, nssv3486039, nssv3485551, nssv3497134, nssv3485450, nssv3502677, nssv3496716, nssv3704028, nssv3498367, nssv3704023, nssv3483038, nssv3498211, nssv3498033, nssv3501536, nssv3483671, nssv3502537, nssv3495240, nssv3498394, nssv3704041, nssv3499001, nssv3491990, nssv3704020, nssv3499294, nssv3487918, nssv3502446, nssv3487710, nssv3484216, nssv3496482, nssv3487074, nssv3484999, nssv3483425, nssv3485705, nssv3704014, nssv3502616, nssv3704026, nssv3704038, nssv3487639, nssv3704032, nssv3487854, nssv3704033, nssv3704018, nssv3498571, nssv3485629, nssv3704045, nssv3486599, nssv3490360, nssv3496272, nssv3485430, nssv3491273, nssv3488925, nssv3704037, nssv3501736, nssv3500746, nssv3495716, nssv3490120, nssv3490370, nssv3483424, nssv3483757, nssv3704035, nssv3489586, nssv3704044, nssv3490420, nssv3704013, nssv3497005, nssv3498444, nssv3490611, nssv3704021, nssv3491183, nssv3704036, nssv3491173, nssv3499114, nssv3495254, nssv3484982, nssv3485426, nssv3486585, nssv3499174, nssv3496387, nssv3484201, nssv3499714, nssv3487849, nssv3490030, nssv3492517, nssv3484088, nssv3704017, nssv3496008, nssv3704029, nssv3486054, nssv3500266, nssv3490654, nssv3496784, nssv3704034, nssv3497349, nssv3496629, nssv3704042, nssv3704039, nssv3491347, nssv3704015, nssv3483209, nssv3704040, nssv3497606, nssv3492354, nssv3492566, nssv3704030, nssv3704019, nssv3704043, nssv3495006, nssv3704024, nssv3486164, nssv3501045, nssv3704016
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)nsv1001373
Frequency
Sample Size29084
Observed Gain63
Observed Loss79
Observed Complex0
Frequencyn/a


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