A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007945



Internal ID19097164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196769481..196830572hg38UCSC Ensembl
Innerchr1:196738611..196799702hg19UCSC Ensembl
Innerchr1:195005234..195066325hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3861092
hg1961092
hg1861092
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv524n100
Supporting Variantsnssv3703392, nssv3500414, nssv3488171, nssv3493166, nssv3502298, nssv3703381, nssv3703388, nssv3703383, nssv3500330, nssv3703389, nssv3493874, nssv3490570, nssv3492784, nssv3501321, nssv3495659, nssv3484813, nssv3703393, nssv3703386, nssv3703384, nssv3496337, nssv3488407, nssv3703387, nssv3493296, nssv3488341, nssv3494003, nssv3498792, nssv3484405, nssv3703390, nssv3703380, nssv3499899, nssv3485126, nssv3703385, nssv3703382, nssv3703394, nssv3703391, nssv3487329
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)nsv1007945
Frequency
Sample Size11257
Observed Gain21
Observed Loss15
Observed Complex0
Frequencyn/a


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