A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512120



Internal ID15851545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:128938518..128940056hg38UCSC Ensembl
Outerchr9:131700797..131702335hg19UCSC Ensembl
Outerchr9:130740618..130742156hg18UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg381539
hg191539
hg181539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624679
Samples1
Known GenesPHYHD1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512120
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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