A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv957393



Internal ID17306266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:114194216..114200158hg38UCSC Ensembl
Outerchr12:114632021..114637963hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg385943
hg195943
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv48n73
Supporting Variantsnssv3004031
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv957393
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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