A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509208



Internal ID15476706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:74759976..74828151hg38UCSC Ensembl
Outerchr7:74174306..74243260hg19UCSC Ensembl
Outerchr7:73812242..73881196hg18UCSC Ensembl
Outerchr7:73618957..73687911hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg383000
hg193000
hg183000
hg173000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620884
SamplesNA15510
Known GenesGTF2I, GTF2IRD2, NCF1
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)nsv509208
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer