A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954442



Internal ID17303316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:181458074..181469373hg38UCSC Ensembl
Outerchr2:182322801..182334100hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3811300
hg1911300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003088
SamplesBILGI_BIOE
Known GenesITGA4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954442
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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