A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954623



Internal ID17303496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:45400805..45401167hg38UCSC Ensembl
Outerchr19:45904063..45904425hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3002878
SamplesBILGI_BIOE
Known GenesPPP1R13L
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954623
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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