A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509025



Internal ID15825051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:174302319..174315218hg38UCSC Ensembl
Outerchr4:175223470..175236369hg19UCSC Ensembl
Outerchr4:175460045..175472944hg18UCSC Ensembl
Outerchr4:175598200..175611099hg17UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg383135
hg193135
hg183135
hg173135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619388
SamplesNA10860
Known GenesCEP44
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)nsv509025
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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