A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622370



Internal ID15470909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:70384945..70646072hg38UCSC Ensembl
Outerchr5:69680772..69941899hg19UCSC Ensembl
Outerchr5:69716528..69977655hg18UCSC Ensembl
Outerchr5:69716528..69977655hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38261128
hg19261128
hg18261128
hg17261128
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511106
Supporting Variants
SamplesNA10860
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, SMA4, SMA5
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)nssv622370
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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