A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013755



Internal ID19102974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196769481..196830146hg38UCSC Ensembl
Innerchr1:196738611..196799276hg19UCSC Ensembl
Innerchr1:195005234..195065899hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3860666
hg1960666
hg1860666
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv524n100
Supporting Variantsnssv3498867, nssv3493227, nssv3501445, nssv3500429, nssv3495573, nssv3485846, nssv3488111, nssv3486844, nssv3488083, nssv3498824, nssv3496868, nssv3493197, nssv3485156, nssv3491932, nssv3499122, nssv3500276, nssv3489444, nssv3495634, nssv3490074, nssv3703364, nssv3493696, nssv3495087, nssv3501700
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)nsv1013755
Frequency
Sample Size11257
Observed Gain19
Observed Loss4
Observed Complex0
Frequencyn/a


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