A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3004071



Internal ID17297023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:103984968..103986926hg38UCSC Ensembl
Outerchr12:104378746..104380704hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381959
hg191959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv958637
Supporting Variants
SamplesBILGI_BIOE
Known GenesTDG
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3004071
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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