A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2763346



Internal ID17485988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6578894..6587817hg38UCSC Ensembl
Innerchr12:6688060..6696983hg19UCSC Ensembl
Innerchr12:6558321..6567244hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg388924
hg198924
hg188924
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973982
Supporting Variants
SamplesHGDP00998
Known GenesCHD4, SCARNA11
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2763346
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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