A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509311



Internal ID15476809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:93580555..93696735hg38UCSC Ensembl
Outerchr9:96342837..96459017hg19UCSC Ensembl
Outerchr9:95382658..95498838hg18UCSC Ensembl
Outerchr9:93422392..93538572hg17UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg384117
hg194117
hg184117
hg174117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619555
SamplesNA10860
Known GenesPHF2
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)nsv509311
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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