A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2759678



Internal ID17478178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:71611299..71693703hg38UCSC Ensembl
Innerchr16:71645202..71727606hg19UCSC Ensembl
Innerchr16:70202703..70285107hg18UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3882405
hg1982405
hg1882405
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962218
Supporting Variants
SamplesHGDP00927
Known GenesMARVELD3, PHLPP2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2759678
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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