A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951331



Internal ID16953518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:14386567..14387966hg38UCSC Ensembl
Outerchr12:14539501..14540900hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999687
SamplesBILGI_BIOE
Known GenesATF7IP
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951331
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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