A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007136



Internal ID19096354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196854175..196932623hg38UCSC Ensembl
Innerchr1:196823305..196901753hg19UCSC Ensembl
Innerchr1:195089928..195168376hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3878449
hg1978449
hg1878449
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv553n100
Supporting Variantsnssv3485289, nssv3490266, nssv3500387, nssv3705481, nssv3484947, nssv3490694, nssv3498024, nssv3492618, nssv3495603, nssv3705479, nssv3497883, nssv3486659, nssv3500243, nssv3495934, nssv3495609, nssv3485984, nssv3500492, nssv3705485, nssv3487602, nssv3499415, nssv3485465, nssv3486820, nssv3500284, nssv3495807, nssv3497823, nssv3501836, nssv3494315, nssv3487565, nssv3705483, nssv3495404, nssv3484067, nssv3498978, nssv3487011, nssv3705482, nssv3705484, nssv3502220, nssv3705480, nssv3499319, nssv3488089, nssv3705486, nssv3496914, nssv3501931
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)nsv1007136
Frequency
Sample Size11257
Observed Gain2
Observed Loss40
Observed Complex0
Frequencyn/a


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