A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622376



Internal ID15470915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:106838006..107036092hg38UCSC Ensembl
Outerchr6:107285881..107357296hg19UCSC Ensembl
Outerchr6:107392574..107463989hg18UCSC Ensembl
Outerchr6:107392574..107463989hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38198087
hg1971416
hg1871416
hg1771416
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510909
Supporting Variants
SamplesNA10860
Known GenesC6orf203
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)nssv622376
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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