A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509334



Internal ID15476832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:136514168..136724663hg38UCSC Ensembl
Outerchr9:139408620..139619115hg19UCSC Ensembl
Outerchr9:138528441..138738936hg18UCSC Ensembl
Outerchr9:136684457..136894952hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg383970
hg193970
hg183970
hg173970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619571, nssv619570
SamplesNA10860
Known GenesAGPAT2, EGFL7, FAM69B, MIR126, MIR4673, MIR4674, NOTCH1, SNHG7
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)nsv509334
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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