A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976025



Internal ID18611232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101663353..101668086hg38UCSC Ensembl
Innerchr12:102057131..102061864hg19UCSC Ensembl
Innerchr12:100581262..100585995hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg384734
hg194734
hg184734
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2761379
SamplesHGDP00998
Known GenesMYBPC1
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976025
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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