A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623487



Internal ID15822060
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
hg383625
hg193625
hg183625
hg173625
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509156
Supporting Variants
SamplesNA18994
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)nssv623487
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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