A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621598



Internal ID15820946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:54206243..54328087hg38UCSC Ensembl
Outerchr7:54273936..54395780hg19UCSC Ensembl
Outerchr7:54241430..54363274hg18UCSC Ensembl
Outerchr7:54048145..54169989hg17UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38121845
hg19121845
hg18121845
hg17121845
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510958
Supporting Variants
SamplesNA15510
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)nssv621598
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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