A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2759557



Internal ID17830936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:92192358..92198845hg38UCSC Ensembl
Innerchr12:92586134..92592621hg19UCSC Ensembl
Innerchr12:91110265..91116752hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg386488
hg196488
hg186488
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977140
Supporting Variants
SamplesHGDP00998
Known Genes
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2759557
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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