A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623562



Internal ID15822135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:88649745..88683134hg38UCSC Ensembl
Outerchr9:91264660..91298049hg19UCSC Ensembl
Outerchr9:90454480..90487869hg18UCSC Ensembl
Outerchr9:88494214..88527603hg17UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg386441
hg196441
hg186441
hg176441
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509308
Supporting Variants
SamplesNA18994
Known GenesLOC286238
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)nssv623562
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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