A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623413



Internal ID15821986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:55737619..55783882hg38UCSC Ensembl
Outerchr4:56603785..56650048hg19UCSC Ensembl
Outerchr4:56298542..56344805hg18UCSC Ensembl
Outerchr4:56444713..56490976hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg384799
hg194799
hg184799
hg174799
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509004
Supporting Variants
SamplesNA18994
Known Genes
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)nssv623413
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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