A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950109



Internal ID17298983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:103140797..103143096hg38UCSC Ensembl
Outerchr5:102476501..102478800hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997798
SamplesBILGI_BIOE
Known GenesPPIP5K2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950109
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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