A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009598



Internal ID19098816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196769481..196832708hg38UCSC Ensembl
Innerchr1:196738611..196801838hg19UCSC Ensembl
Innerchr1:195005234..195068461hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3863228
hg1963228
hg1863228
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv524n100
Supporting Variantsnssv3487508, nssv3488738, nssv3495946, nssv3491193, nssv3485530, nssv3498696, nssv3499495, nssv3703464, nssv3500463, nssv3488208, nssv3486095, nssv3495445, nssv3490282, nssv3703461, nssv3493199, nssv3487894, nssv3490791, nssv3703468, nssv3494455, nssv3484504, nssv3485711, nssv3703457, nssv3497273, nssv3488408, nssv3488284, nssv3489853, nssv3499186, nssv3703458, nssv3703460, nssv3703467, nssv3494110, nssv3500102, nssv3500126, nssv3703465, nssv3487018, nssv3495563, nssv3490627, nssv3485721, nssv3489441, nssv3488129, nssv3495131, nssv3703469, nssv3495251, nssv3703459, nssv3703462, nssv3484526, nssv3484695, nssv3490393, nssv3703466, nssv3703463, nssv3494868, nssv3485269, nssv3487589, nssv3484495, nssv3483537, nssv3703456, nssv3499344, nssv3499669, nssv3493993
Samples
Known GenesCFHR1, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009598
Frequency
Sample Size11257
Observed Gain29
Observed Loss30
Observed Complex0
Frequencyn/a


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