A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953200



Internal ID17302074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232317591..232352590hg38UCSC Ensembl
Outerchr2:233182301..233217300hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3835000
hg1935000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000910
SamplesBILGI_BIOE
Known GenesDIS3L2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953200
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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