A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003706



Internal ID19092924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196769481..196855458hg38UCSC Ensembl
Innerchr1:196738611..196824588hg19UCSC Ensembl
Innerchr1:195005234..195091211hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3885978
hg1985978
hg1885978
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv526n100
Supporting Variantsnssv3487269, nssv3494428, nssv3490772, nssv3499546, nssv3495274, nssv3483852, nssv3502600, nssv3483721, nssv3501889, nssv3487045, nssv3484496, nssv3487961, nssv3483118, nssv3484264, nssv3500401, nssv3500889, nssv3501416, nssv3497743, nssv3487406, nssv3501984
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)nsv1003706
Frequency
Sample Size11257
Observed Gain19
Observed Loss1
Observed Complex0
Frequencyn/a


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