A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000443



Internal ID17293395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:121742286..121742420hg38UCSC Ensembl
Outerchr1:121484084..121484218hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954094
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000443
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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