A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619385



Internal ID15471280
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
hg388368
hg198368
hg188368
hg178368
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509018
Supporting Variants
SamplesNA10860
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)nssv619385
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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