A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952189



Internal ID16954376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:57127118..57245617hg38UCSC Ensembl
Outerchr12:57520901..57639400hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38118500
hg19118500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999737
SamplesBILGI_BIOE
Known GenesLRP1, MIR1228, NDUFA4L2, NXPH4, SHMT2, STAC3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952189
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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