A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001860



Internal ID19091077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196843365..196926705hg38UCSC Ensembl
Innerchr1:196812495..196895835hg19UCSC Ensembl
Innerchr1:195079118..195162458hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3883341
hg1983341
hg1883341
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv553n100
Supporting Variantsnssv3494418, nssv3496937, nssv3705467, nssv3495711, nssv3490454, nssv3498973, nssv3497810, nssv3499561, nssv3491248, nssv3495167
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)nsv1001860
Frequency
Sample Size11257
Observed Gain1
Observed Loss9
Observed Complex0
Frequencyn/a


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