A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998359



Internal ID19157895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196843365..196932623hg38UCSC Ensembl
Innerchr1:196812495..196901753hg19UCSC Ensembl
Innerchr1:195079118..195168376hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3889259
hg1989259
hg1889259
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv553n100
Supporting Variantsnssv3485068, nssv3496775, nssv3489192, nssv3487217, nssv3491319, nssv3498098, nssv3495494, nssv3497903, nssv3484992, nssv3705470, nssv3486417, nssv3494592, nssv3483514, nssv3705469, nssv3485225, nssv3488651, nssv3499062, nssv3499799, nssv3485859, nssv3501691, nssv3488121, nssv3495771, nssv3705472, nssv3492927, nssv3492642, nssv3485652, nssv3500465, nssv3493871, nssv3487362, nssv3489641, nssv3497609, nssv3493729, nssv3493998, nssv3492372, nssv3705471, nssv3495080, nssv3495592, nssv3501724, nssv3501615, nssv3705473, nssv3494838, nssv3489656, nssv3487925, nssv3493895, nssv3485433, nssv3705468, nssv3498799, nssv3502219, nssv3499976
Samples
Known GenesCFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998359
Frequency
Sample Size11257
Observed Gain4
Observed Loss45
Observed Complex0
Frequencyn/a


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