A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055764



Internal ID18798295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:56633873..56690203hg38UCSC Ensembl
Innerchr16:56667785..56724115hg19UCSC Ensembl
Innerchr16:55225286..55281616hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3856331
hg1956331
hg1856331
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2989n100
Supporting Variantsnssv3559349
Samples
Known GenesMT1A, MT1B, MT1DP, MT1F, MT1G, MT1H, MT1IP, MT1JP, MT1M, MT1X
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055764
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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