A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951249



Internal ID17300123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:11167338..11185037hg38UCSC Ensembl
Outerchr10:11209301..11227000hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3817700
hg1917700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997085
SamplesBILGI_BIOE
Known GenesCELF2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951249
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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