A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509232



Internal ID15825258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158051897..158123223hg38UCSC Ensembl
Outerchr7:157844589..157915915hg19UCSC Ensembl
Outerchr7:157537350..157608676hg18UCSC Ensembl
Outerchr7:157344065..157415391hg17UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg383075
hg193075
hg183075
hg173075
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619508
SamplesNA10860
Known GenesPTPRN2
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv509232
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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