A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000489



Internal ID17293441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:190628822..190628900hg38UCSC Ensembl
Outerchr1:190597952..190598030hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955064
Supporting Variants
SamplesBILGI_BIOE
Known GenesLOC440704
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000489
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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