A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619378



Internal ID15817959
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
hg385331
hg195331
hg185331
hg175331
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509010
Supporting Variants
SamplesNA10860
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)nssv619378
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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