A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056789



Internal ID18799320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:56629882..56665589hg38UCSC Ensembl
Innerchr16:56663794..56699501hg19UCSC Ensembl
Innerchr16:55221295..55257002hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3835708
hg1935708
hg1835708
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2988n100
Supporting Variantsnssv3559343
Samples
Known GenesMT1A, MT1B, MT1DP, MT1F, 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)nsv1056789
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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