A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3004499



Internal ID17297451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:123517918..123518254hg38UCSC Ensembl
Outerchr3:123236765..123237101hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv956811
Supporting Variants
SamplesBILGI_BIOE
Known GenesPTPLB
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3004499
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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