A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067409



Internal ID18809940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:56629882..56680608hg38UCSC Ensembl
Innerchr16:56663794..56714520hg19UCSC Ensembl
Innerchr16:55221295..55272021hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3850727
hg1950727
hg1850727
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2989n100
Supporting Variantsnssv3722714, nssv3559346, nssv3559345
Samples
Known GenesMT1A, MT1B, MT1DP, MT1F, MT1G, MT1H, MT1IP, MT1JP, MT1M
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067409
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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