A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952115



Internal ID17300989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:6454781..6512380hg38UCSC Ensembl
Outerchr17:6358101..6415700hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3857600
hg1957600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000234
SamplesBILGI_BIOE
Known GenesPITPNM3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952115
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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