A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999068



Internal ID19158604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196847588..196932623hg38UCSC Ensembl
Innerchr1:196816718..196901753hg19UCSC Ensembl
Innerchr1:195083341..195168376hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3885036
hg1985036
hg1885036
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv553n100
Supporting Variantsnssv3499711, nssv3502449, nssv3496180, nssv3485262, nssv3484721, nssv3500572, nssv3495631, nssv3485698
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)nsv999068
Frequency
Sample Size11257
Observed Gain1
Observed Loss7
Observed Complex0
Frequencyn/a


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