A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509915



Internal ID15825941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:94014791..94020791hg38UCSC Ensembl
Outerchr4:94935942..94941942hg19UCSC Ensembl
Outerchr4:95154965..95160965hg18UCSC Ensembl
Outerchr4:95293120..95299120hg17UCSC Ensembl
Cytoband4q22.2
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622059
SamplesNA10860
Known Genes
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)nsv509915
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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