A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3003125



Internal ID16949391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219250279..219254378hg38UCSC Ensembl
Outerchr2:220115001..220119100hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954842
Supporting Variants
SamplesBILGI_BIOE
Known GenesSTK16, TUBA4A, TUBA4B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3003125
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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