A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950146



Internal ID16952333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:28259123..28267322hg38UCSC Ensembl
Outerchr6:28226901..28235100hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg388200
hg198200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997418
SamplesBILGI_BIOE
Known GenesNKAPL, ZSCAN26
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950146
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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