A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618026



Internal ID15817181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:91038847..91071812hg38UCSC Ensembl
Outerchr4:91959998..91992963hg19UCSC Ensembl
Outerchr4:92179021..92211986hg18UCSC Ensembl
Outerchr4:92317176..92350141hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg384203
hg194203
hg184203
hg174203
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509010
Supporting Variants
SamplesCHM
Known GenesCCSER1
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)nssv618026
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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