A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509434



Internal ID15476932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:77115129..77231618hg38UCSC Ensembl
Outerchr11:76826175..76942663hg19UCSC Ensembl
Outerchr11:76503823..76620311hg18UCSC Ensembl
Outerchr11:76503823..76620311hg17UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg383984
hg193984
hg183984
hg173984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619409
SamplesNA10860
Known GenesCAPN5, GDPD4, MYO7A
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)nsv509434
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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