A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509156



Internal ID15825182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:157535603..157561036hg38UCSC Ensembl
Outerchr6:157956635..157982068hg19UCSC Ensembl
Outerchr6:157876623..157902056hg18UCSC Ensembl
Outerchr6:157927044..157952477hg17UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg385263
hg195263
hg185263
hg175263
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618058, nssv623487
SamplesCHM, NA18994
Known GenesZDHHC14
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)nsv509156
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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