A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951343



Internal ID16953530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:26672468..26675167hg38UCSC Ensembl
Outerchr12:26825401..26828100hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999699
SamplesBILGI_BIOE
Known GenesITPR2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951343
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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