A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509327



Internal ID15476825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:131241381..131448812hg38UCSC Ensembl
Outerchr9:134116768..134324199hg19UCSC Ensembl
Outerchr9:133106589..133314020hg18UCSC Ensembl
Outerchr9:131146322..131353753hg17UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg383518
hg193518
hg183518
hg173518
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620930, nssv619565, nssv623569, nssv619564
SamplesNA15510, NA18994, NA10860
Known GenesFAM78A, PPAPDC3, PRRC2B
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)nsv509327
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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