A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511106



Internal ID15478600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:70384945..70996423hg38UCSC Ensembl
Outerchr5:69680772..70292250hg19UCSC Ensembl
Outerchr5:69716528..70328006hg18UCSC Ensembl
Outerchr5:69716528..70328006hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38611479
hg19611479
hg18611479
hg17611479
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624297, nssv622370
SamplesNA18994, NA10860
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, NAIP, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
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)nsv511106
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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