A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951347



Internal ID17300221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:32588267..32593766hg38UCSC Ensembl
Outerchr12:32741201..32746700hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg385500
hg195500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999703
SamplesBILGI_BIOE
Known GenesFGD4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951347
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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