A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999859



Internal ID16946125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47664444..47668843hg38UCSC Ensembl
Outerchr19:48167701..48172100hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg384400
hg194400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953593
Supporting Variants
SamplesBILGI_BIOE
Known GenesGLTSCR1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999859
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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