A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620796



Internal ID15473462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:150237671..150265252hg38UCSC Ensembl
Outerchr4:151158823..151186404hg19UCSC Ensembl
Outerchr4:151378273..151405854hg18UCSC Ensembl
Outerchr4:151516428..151544009hg17UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg386204
hg196204
hg186204
hg176204
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv509018
Supporting Variants
SamplesNA15510
Known GenesDCLK2, LRBA
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)nssv620796
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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