A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977144



Internal ID18265664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101727921..101734218hg38UCSC Ensembl
Innerchr12:102121699..102127996hg19UCSC Ensembl
Innerchr12:100645830..100652127hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg386298
hg196298
hg186298
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2759907
SamplesHGDP00998
Known GenesCHPT1, SYCP3
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977144
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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