A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509334



Internal ID6096266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:139408620..139619115hg19UCSC Ensembl
Outerchr9:138528441..138738936hg18UCSC Ensembl
Outerchr9:136684457..136894952hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv619570, nssv619571
SamplesNA10860
Known GenesAGPAT2, EGFL7, FAM69B, MIR126, MIR4673, MIR4674, NOTCH1, SNHG7
Method
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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