A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620859



Internal ID15473525
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
hg38123386
hg19123386
hg18123386
hg17123386
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv509145
Supporting Variants
SamplesNA15510
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)nssv620859
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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