A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623570



Internal ID15475457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:132941822..132956074hg38UCSC Ensembl
Outerchr9:135817209..135831461hg19UCSC Ensembl
Outerchr9:134807030..134821282hg18UCSC Ensembl
Outerchr9:132846763..132861015hg17UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg383041
hg193041
hg183041
hg173041
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509329
Supporting Variants
SamplesNA18994
Known GenesTSC1
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)nssv623570
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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