A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512598



Internal ID15852023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55207325..55210427hg38UCSC Ensembl
Outerchr19:55718693..55721795hg19UCSC Ensembl
Outerchr19:60410505..60413607hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg383103
hg193103
hg183103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625209
Samples1
Known GenesPTPRH
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512598
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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