A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509444



Internal ID15476942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:118033438..118117536hg38UCSC Ensembl
Outerchr11:117904153..117988251hg19UCSC Ensembl
Outerchr11:117409363..117493461hg18UCSC Ensembl
Outerchr11:117409363..117493461hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383096
hg193096
hg183096
hg173096
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620901
SamplesNA15510
Known GenesTMPRSS4, TMPRSS4-AS1
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)nsv509444
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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